Publications by authors named "Carla E M Hollak"

100Publications

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.

Mol Genet Metab 2020 Nov 6. Epub 2020 Nov 6.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.11.001DOI Listing
November 2020

Registries for orphan drugs: generating evidence or marketing tools?

Orphanet J Rare Dis 2020 09 3;15(1):235. Epub 2020 Sep 3.

Platform Medicine for Society at Amsterdam University Medical Centers, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-020-01519-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469301PMC
September 2020

Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.

J Inherit Metab Dis 2020 Sep 25;43(5):1070-1081. Epub 2020 Jun 25.

Department of Endocrinology and Metabolism, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540266PMC
September 2020

Determinants of cerebral radiological progression in Fabry disease.

J Neurol Neurosurg Psychiatry 2020 07 21;91(7):756-763. Epub 2020 Apr 21.

Endocrinology and Metabolism, Amsterdam UMC-Locatie AMC, Amsterdam, The Netherlands

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http://dx.doi.org/10.1136/jnnp-2019-322268DOI Listing
July 2020

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.

Mol Genet Metab 2020 05 12;130(1):16-26. Epub 2020 Feb 12.

Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.02.002DOI Listing
May 2020

Developments in the treatment of Fabry disease.

J Inherit Metab Dis 2020 Sep 2;43(5):908-921. Epub 2020 Mar 2.

Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540041PMC
September 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet J Rare Dis 2020 02 7;15(1):42. Epub 2020 Feb 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-019-1277-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007688PMC
February 2020

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain.

Orphanet J Rare Dis 2020 01 28;15(1):28. Epub 2020 Jan 28.

Department of Endocrinology and Metabolism, Amsterdam UMC, location AMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-020-1307-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986064PMC
January 2020

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Mol Genet Metab 2020 03 9;129(3):171-176. Epub 2020 Jan 9.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.01.002DOI Listing
March 2020

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.

Paediatr Drugs 2019 Dec;21(6):413-426

Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s40272-019-00364-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885500PMC
December 2019

The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease.

JIMD Rep 2019 Jul 20;48(1):53-59. Epub 2019 May 20.

Department of Endocrinology and Metabolism Amsterdam UMC, Location AMC, University of Amsterdam Amsterdam The Netherlands.

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http://dx.doi.org/10.1002/jmd2.12036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606981PMC
July 2019

[Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations].

Ned Tijdschr Geneeskd 2019 05 16;163. Epub 2019 May 16.

Amsterdam UMC, locatie AMC, afd. Inwendige Geneeskunde, onderafd. Endocrinologie en Metabolisme, Amsterdam.

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May 2019

Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.

J Inherit Metab Dis 2019 09 16;42(5):762-775. Epub 2019 May 16.

Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, Netherlands.

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http://dx.doi.org/10.1002/jimd.12103DOI Listing
September 2019

Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation.

Eur J Pharm Biopharm 2019 Apr 25;137:185-195. Epub 2019 Feb 25.

Department of Pharmaceutical Sciences, Utrecht Institute for Pharmaceutical Sciences (UIPS), Faculty of Science, Utrecht University, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpb.2019.02.019DOI Listing
April 2019

Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease.

Sci Rep 2019 01 17;9(1):188. Epub 2019 Jan 17.

Department of Endocrinology and Metabolism, Amsterdam University Medical Centers location Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41598-018-37320-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336934PMC
January 2019

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Neurology 2019 01 7;92(2):e83-e95. Epub 2018 Dec 7.

From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Neurology (B.M.L.S., A.V.), Canisius Wilhelmina Hospital, Nijmegen; Department of Pediatrics (H.H.H.), Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center-University Hospital, Rotterdam; Department of Neurology (B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour (B.P.C.v.d.W., R.A.W.), and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen; Department of Genetics (E.H.B.), University Medical Center Utrecht; Department of Internal Medicine (C.E.M.H.), Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam; Department of Internal Medicine (H.R.H.), Máxima Medical Center Eindhoven; Department of Internal Medicine (H.R.H.), Maastricht University Medical Center; and CAPHRI School for Public Health and Primary Care, Ageing and Long-Term Care (H.R.H.), Maastricht University, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000006731DOI Listing
January 2019

Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?

Orphanet J Rare Dis 2018 11 28;13(1):214. Epub 2018 Nov 28.

College ter Beoordeling Geneesmiddelen/ Dutch Medicines Evaluation Board, Utrecht, the Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0900-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263065PMC
November 2018

Saposin C is a frequent target of paraproteins in Gaucher disease-associated MGUS/multiple myeloma.

Br J Haematol 2019 02 18;184(3):384-391. Epub 2018 Nov 18.

Department of Internal Medicine I, José-Carreras-Centre, Saarland University Medical School, Homburg (Saar), Germany.

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http://dx.doi.org/10.1111/bjh.15659DOI Listing
February 2019

Development and clinical consequences of white matter lesions in Fabry disease: a systematic review.

Mol Genet Metab 2018 11 5;125(3):205-216. Epub 2018 Sep 5.

Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.08.014DOI Listing
November 2018

Dose-Finding Studies Among Orphan Drugs Approved in the EU: A Retrospective Analysis.

J Clin Pharmacol 2019 02 7;59(2):229-244. Epub 2018 Sep 7.

College ter Beoordeling Geneesmiddelen/Medicines Evaluation Board, Graadt van Roggenweg, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/jcph.1304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585723PMC
February 2019

The need for additional care in patients with classical galactosaemia.

Disabil Rehabil 2019 11 31;41(22):2663-2668. Epub 2018 May 31.

Department of Pediatrics, Academic Medical Center , Amsterdam , The Netherlands.

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http://dx.doi.org/10.1080/09638288.2018.1475514DOI Listing
November 2019

Mucolipidosis type III, a series of adult patients.

J Inherit Metab Dis 2018 09 27;41(5):839-848. Epub 2018 Apr 27.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0186-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174PMC
September 2018

Adaptive pathway development for Fabry disease: a clinical approach.

Drug Discov Today 2018 06 15;23(6):1251-1257. Epub 2018 Feb 15.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2018.02.004DOI Listing
June 2018

Hepatocellular carcinoma in Gaucher disease: an international case series.

J Inherit Metab Dis 2018 09 8;41(5):819-827. Epub 2018 Feb 8.

Department of Internal Medicine, division of Endocrinology & Metabolism, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0142-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133179PMC
September 2018

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy.

J Am Acad Child Adolesc Psychiatry 2018 02;57(2):74-76

Center for Childhood White Matter Disorders, VU University Medical Centre and Amsterdam Neuroscience, Amsterdam. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2017.11.017DOI Listing
February 2018

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Ann Nutr Metab 2018 16;72(1):80-81. Epub 2018 Jan 16.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1159/000486185DOI Listing
August 2019

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.

J Inherit Metab Dis 2018 01 16;41(1):141-149. Epub 2017 Oct 16.

Department of Endocrinology and Metabolism, Academic Medical Center, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/s10545-017-0095-6
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http://dx.doi.org/10.1007/s10545-017-0095-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786653PMC
January 2018

Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.

Br J Haematol 2017 11 14;179(4):635-647. Epub 2017 Sep 14.

Department of Internal Medicine, Division of Endocrinology & Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1111/bjh.14915DOI Listing
November 2017

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Fertil Steril 2017 07 1;108(1):168-174. Epub 2017 Jun 1.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.013DOI Listing
July 2017

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Ann Nutr Metab 2017 24;70(2):111-121. Epub 2017 Mar 24.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1159/000465529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516403PMC
March 2018

Classifying the additional morbidities of Gaucher disease.

Blood Cells Mol Dis 2018 02 19;68:209-210. Epub 2016 Dec 19.

Gaucher Clinic, Department of Medicine, Shaare Zedek Medical Center, Hebrew University and Hadassah Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.bcmd.2016.12.006DOI Listing
February 2018

Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease.

Blood Cells Mol Dis 2016 09 1;60:49-57. Epub 2016 Jul 1.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.06.009DOI Listing
September 2016

Assessment of plasma acylcarnitines before and after weight loss in obese subjects.

Arch Biochem Biophys 2016 Sep 19;606:73-80. Epub 2016 Jul 19.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Institute of Metabolic Science, Metabolic Research Laboratories, Cambridge University Hospital NHS Trust, Cambridge, UK. Electronic address: http://www.metabolism.maartensoeters.nl/

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http://dx.doi.org/10.1016/j.abb.2016.07.013DOI Listing
September 2016

Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications.

Blood Rev 2016 11 27;30(6):431-437. Epub 2016 May 27.

Department of Internal Medicine, division of Endocrinology and Metabolism, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.blre.2016.05.003DOI Listing
November 2016

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

Neurology 2016 Jul 3;87(1):103-11. Epub 2016 Jun 3.

From the Department of Child Neurology, Center for Childhood White Matter Disorders and Neuroscience Campus Amsterdam (D.F.v.R.,M.S.v.d.K., N.I.W.), Department of Pathology, Center for Childhood White Matter Disorders (M.B.), and Departments of Surgery (F.D.), Pediatric Gastroenterology (T.G.J.d.M.), and Radiology (M.M.A.C.v.D., J.I.M.L.V.), VU University Medical Center Amsterdam; Department of Pediatrics, Blood and Marrow Transplantation Program (J.J.B.), and Departments of Metabolic Disorders (P.M.v.H.) and Pathology (W.v.H.), University Medical Center Utrecht; Pediatric Surgical Center of Amsterdam (A.F.W.v.d.S.), Emma Children's Hospital Academic Medical Center and VU University Medical Center Amsterdam; Department of Surgery (D.J.G.), and Department of Internal Medicine, Division of Endocrinology and Metabolism (C.E.M.H.), Academic Medical Center Amsterdam; and Department of Clinical Chemistry (G.S.S.), VU Medical Center and Neuroscience Campus Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000002811DOI Listing
July 2016

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.

Blood 2016 06 26;127(24):3098-101. Epub 2016 Apr 26.

Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, and Neuroscience Campus Amsterdam, Amsterdam, The Netherlands;

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http://dx.doi.org/10.1182/blood-2016-03-708479DOI Listing
June 2016

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

Biochim Biophys Acta 2016 08 22;1862(8):1375-82. Epub 2016 Apr 22.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.04.012DOI Listing
August 2016

Post-authorisation assessment of orphan drugs.

Lancet 2015 Nov 13;386(10007):1940-1. Epub 2015 Nov 13.

Amsterdam Institute for Social Science Research, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S0140-6736(15)00827-2DOI Listing
November 2015

Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis.

Chest 2016 Jan 6;149(1):e1-5. Epub 2016 Jan 6.

Department of Respiratory Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.chest.2015.09.011DOI Listing
January 2016

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.

JIMD Rep 2016 14;28:95-103. Epub 2015 Nov 14.

Department of Endocrinology and Metabolism, Amsterdam lysosome center 'Sphinx', Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059210PMC
http://dx.doi.org/10.1007/8904_2015_503DOI Listing
November 2015

Dyslipidaemia: Lysosomal acid lipase deficiency-a cautious leap forward.

Nat Rev Endocrinol 2015 Dec 27;11(12):696-7. Epub 2015 Oct 27.

Department of Internal Medicine, Division of Vascular Medicine, Academic Medical Center, PO Box 22660, 1100 DD Amsterdam 16:35, Netherlands.

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http://dx.doi.org/10.1038/nrendo.2015.182DOI Listing
December 2015

Quality of life in patients with Fabry disease: a systematic review of the literature.

Orphanet J Rare Dis 2015 Jun 16;10:77. Epub 2015 Jun 16.

Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0296-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501376PMC
June 2015

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders.

Best Pract Res Clin Endocrinol Metab 2015 Mar 27;29(2):219-35. Epub 2014 Aug 27.

Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X140010
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http://dx.doi.org/10.1016/j.beem.2014.08.010DOI Listing
March 2015

The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease.

Best Pract Res Clin Endocrinol Metab 2015 Mar 27;29(2):205-18. Epub 2014 Aug 27.

University Research Foundation for Lysosomal Storage Diseases, Coral Springs, FL, USA.

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http://dx.doi.org/10.1016/j.beem.2014.08.006DOI Listing
March 2015

Lysosomal storage disorders. Preface.

Authors:
Carla E M Hollak

Best Pract Res Clin Endocrinol Metab 2015 Mar;29(2):125-6

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X150003
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http://dx.doi.org/10.1016/j.beem.2015.04.011DOI Listing
March 2015

Bone health in phenylketonuria: a systematic review and meta-analysis.

Orphanet J Rare Dis 2015 Feb 15;10:17. Epub 2015 Feb 15.

Metabolic Nutrition and Genetics Program Department of Human Genetics, Emory University Atlanta GA United States, Atlanta, GA, USA.

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http://dx.doi.org/10.1186/s13023-015-0232-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340652PMC
February 2015

Rare diseases and effective treatments: are we delivering?

Lancet 2015 Feb;385(9970):750-2

IRCCS Istituto di Ricerche Farmacologiche Mario Negri, 24126 Bergamo, Italy. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(15)60297-5DOI Listing
February 2015

Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.

Br J Ophthalmol 2016 Jan 12;100(1):3-8. Epub 2015 Feb 12.

Department of Endocrinology and Metabolism, Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2014-3064
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http://dx.doi.org/10.1136/bjophthalmol-2014-306433DOI Listing
January 2016

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

J Med Genet 2015 Apr 16;52(4):262-8. Epub 2015 Jan 16.

Laboratory of Genetic Metabolic Diseases, Amsterdam lysosome center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102872DOI Listing
April 2015

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Mol Genet Metab 2015 Mar 12;114(3):425-30. Epub 2014 Dec 12.

Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.12.302DOI Listing
March 2015

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.

J Inherit Metab Dis 2015 Mar 14;38(2):351-8. Epub 2014 Nov 14.

Sphinx-Amsterdam Lysosome Center, Department of Endocrinology and metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9783-7DOI Listing
March 2015

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

J Inherit Metab Dis 2015 Mar 22;38(2):323-31. Epub 2014 Jul 22.

Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9737-0DOI Listing
March 2015

Treatment of lysosomal storage disorders: successes and challenges.

J Inherit Metab Dis 2014 Jul 13;37(4):587-98. Epub 2014 May 13.

Department of Internal Medicine, Division of Endocrinology and Metabolism, SPHINX, Amsterdam Lysosome Center, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9718-3DOI Listing
July 2014

Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.

Orphanet J Rare Dis 2014 Apr 14;9:51. Epub 2014 Apr 14.

Clinical Research Unit, Academic Medical Center, PO Box 22660, 1100 DD Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-9-51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022049PMC
April 2014

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages.

J Inherit Metab Dis 2014 May 4;37(3):341-52. Epub 2014 Feb 4.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9677-8DOI Listing
May 2014

Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease.

Kidney Int 2014 Jul 8;86(1):58-66. Epub 2014 Jan 8.

Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/ki.2013.520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077934PMC
July 2014

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Mol Genet Metab 2013 22;110 Suppl:S57-61. Epub 2013 Oct 22.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.011DOI Listing
July 2014

Fabry disease: a rare cause of neuropathic pain.

Curr Pain Headache Rep 2013 Oct;17(10):365

Department of Internal Medicine, div Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s11916-013-0365-4DOI Listing
October 2013

Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study.

Blood Cells Mol Dis 2013 Aug 14;51(2):116-24. Epub 2013 May 14.

Hematology Division, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.bcmd.2013.04.005DOI Listing
August 2013

Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.

Br J Haematol 2013 Jun 18;161(6):832-42. Epub 2013 Apr 18.

Department of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/bjh.12335DOI Listing
June 2013

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.

Mol Genet Metab 2013 Jun 21;109(2):201-7. Epub 2013 Mar 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.03.008DOI Listing
June 2013

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.

Orphanet J Rare Dis 2013 Mar 25;8:47. Epub 2013 Mar 25.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, DD, 1100, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626869PMC
March 2013

Cost-effectiveness of enzyme replacement therapy for Fabry disease.

Orphanet J Rare Dis 2013 Feb 19;8:29. Epub 2013 Feb 19.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, Amsterdam, DD 1100, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598841PMC
February 2013

FabryScan: a screening tool for early detection of Fabry disease.

J Neurol 2012 Nov 10;259(11):2393-400. Epub 2012 Aug 10.

Division of Neurological Pain Research and Therapy, Christian-Albrechts-Universität Kiel, Haus 41, Arnold-Heller-Str. 3, 24105, Kiel, Germany.

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http://link.springer.com/10.1007/s00415-012-6619-y
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http://dx.doi.org/10.1007/s00415-012-6619-yDOI Listing
November 2012

Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.

Hypertension 2012 Oct 6;60(4):998-1005. Epub 2012 Aug 6.

Department of Internal Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.112.195685DOI Listing
October 2012

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.

Br J Haematol 2012 Aug 29;158(4):528-38. Epub 2012 May 29.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-2141.2012.09175.xDOI Listing
August 2012

Small fiber neuropathy in Fabry disease.

Mol Genet Metab 2012 Jun 24;106(2):135-41. Epub 2012 Mar 24.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2012.03.010DOI Listing
June 2012

Prevalence of symptoms in female Fabry disease patients: a case-control survey.

J Inherit Metab Dis 2012 Sep 20;35(5):891-8. Epub 2012 Mar 20.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9447-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432199PMC
September 2012

The cognitive profile of type 1 Gaucher disease patients.

J Inherit Metab Dis 2012 Nov 21;35(6):1093-9. Epub 2012 Feb 21.

Department of Internal Medicine, Academic Medical Center, F5-169, Box 22700, 1100 DE, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-012-9460-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470680PMC
November 2012

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients.

Orphanet J Rare Dis 2011 Oct 31;6:69. Epub 2011 Oct 31.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-6-69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219561PMC
October 2011

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life.

Mol Genet Metab 2011 Nov 13;104(3):308-13. Epub 2011 Jul 13.

Department of Pediatrics, Academic Medical Center and Amsterdam Lysosome Center, Sphinx, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.07.006DOI Listing
November 2011