Gajja S Salomons

Gajja S Salomons

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Gajja S Salomons

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Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.

J Inherit Metab Dis 2019 Sep 29;42(5):1030-1039. Epub 2019 May 29.

Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington.

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http://dx.doi.org/10.1002/jimd.12107DOI Listing
September 2019

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Hum Mutat 2019 Jul 13;40(7):975-982. Epub 2019 Apr 13.

Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619364PMC
July 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 Mar 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use-limiting visual field defects.

Pharmacol Res Perspect 2019 02 7;7(1):e00456. Epub 2019 Jan 7.

Department of Pharmacotherapy College of Pharmacy and Pharmaceutical Sciences Washington State University Spokane Washington.

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http://dx.doi.org/10.1002/prp2.456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321982PMC
February 2019

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

JIMD Rep 2019 14;43:27-35. Epub 2018 Apr 14.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1007/8904_2018_93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323020PMC
April 2018

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Can J Neurol Sci 2018 01 16;45(1):93-96. Epub 2017 Nov 16.

1Department of Pediatrics,Division of Clinical and Metabolic Genetics,University of Toronto,Toronto,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2017.246DOI Listing
January 2018

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.

PLoS One 2017 20;12(10):e0186919. Epub 2017 Oct 20.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0186919PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650182PMC
November 2017

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

Eur J Paediatr Neurol 2017 Mar 19;21(2):396-403. Epub 2016 Nov 19.

Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.11.002DOI Listing
March 2017

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

JIMD Rep 2017 21;37:13-17. Epub 2017 Feb 21.

Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740046PMC
February 2017

Phenotyping GABA transaminase deficiency: a case description and literature review.

J Inherit Metab Dis 2016 09 4;39(5):743-747. Epub 2016 Jul 4.

Centro Hospitalar e Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10545-016-9951-zDOI Listing
September 2016

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.

Dev Period Med 2016 Apr-Jun;20(2):110-7

Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.

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September 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

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

J Dev Behav Pediatr 2016 05;37(4):322-6

*Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD; †Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; ‡Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD; §Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT; ‖Associated Regional and University Pathologists (ARUP) Laboratories, Salt Lake City, UT; ¶Department of Pathology, University of Utah, Salt Lake City, UT; **Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/DBP.0000000000000299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907372PMC
May 2016

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

Neuropediatrics 2016 Jan 30;47(1):64-7. Epub 2015 Nov 30.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0035-1568987DOI Listing
January 2016

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Mol Genet Genomics 2015 Dec 24;290(6):2163-71. Epub 2015 May 24.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1007/s00438-015-1067-xDOI Listing
December 2015

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Hum Mol Genet 2015 Dec 12;24(25):7339-48. Epub 2015 Oct 12.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands and

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http://dx.doi.org/10.1093/hmg/ddv431DOI Listing
December 2015

Recessive ITPA mutations cause an early infantile encephalopathy.

Ann Neurol 2015 Oct 21;78(4):649-58. Epub 2015 Aug 21.

Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.24496DOI Listing
October 2015

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

J Inherit Metab Dis 2015 Sep 3;38(5):889-94. Epub 2015 Feb 3.

Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, De Boelelaan 1117, 1081HV, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9809-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551550PMC
September 2015

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

Neurology 2015 Sep 12;85(10):861-5. Epub 2015 Aug 12.

From the Division of Neurology, Department of Medicine (S.L.-R., C.D.M., A.G.) and Department of Radiology (C.T.), The Ottawa Hospital, University of Ottawa, Ontario, Canada; Division of Neurology (E.C.L.) and Department of Pediatrics (P.C.), Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada; Division of Experimental and Systems Pharmacology (K.M.G.), Washington State University College of Pharmacy, Spokane, WA; Department of Clinical Chemistry (G.S.S., C.J.), Metabolic Unit, Polikliniek rec. K (PK 1X 009), VU University Medical Center, Amsterdam, the Netherlands; University of Ottawa Eye Institute (A.A.-R.), Ottawa, Ontario, Canada; and Department of Epilepsy & Clinical Neurophysiology (M.P., P.L.P.), Harvard Medical School, Boston Children's Hospital, Boston, MA. Dr. Lapalme-Remis is currently with the Mayo Clinic, Rochester, MN. Dr. Lewis is currently with The Hospital for Sick Children, Toronto, Ontario, Canada. Dr. Ali-Ridha is currently with McGill University, Montreal, Quebec, Canada.

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http://www.neurology.org/content/85/10/861.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000190
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http://dx.doi.org/10.1212/WNL.0000000000001906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560056PMC
September 2015

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

Gene 2015 Jul 8;565(2):187-91. Epub 2015 Apr 8.

Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.011DOI Listing
July 2015

Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse.

Ann Clin Transl Neurol 2015 Jun 17;2(6):699-706. Epub 2015 Apr 17.

Section of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University Spokane, Washington.

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http://dx.doi.org/10.1002/acn3.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479529PMC
June 2015

Clinical and molecular characteristics of two transaldolase-deficient patients.

Eur J Pediatr 2014 Dec 5;173(12):1679-82. Epub 2014 Feb 5.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland,

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http://dx.doi.org/10.1007/s00431-014-2261-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245499PMC
December 2014

Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Eur J Pediatr 2014 Dec 20;173(12):1719-22. Epub 2014 Sep 20.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich-Heine-University, Moorenstr. 5, 40225, Duesseldorf, Germany,

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http://dx.doi.org/10.1007/s00431-014-2421-4DOI Listing
December 2014

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

Hum Mutat 2014 Oct 31;35(10):1195-202. Epub 2014 Jul 31.

Metabolism and Genetics Group, Research Institute for Medicines, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal; Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22616DOI Listing
October 2014

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.

J Inherit Metab Dis 2014 Sep 1;37(5):775-81. Epub 2014 Apr 1.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany,

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http://link.springer.com/10.1007/s10545-014-9702-y
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http://dx.doi.org/10.1007/s10545-014-9702-yDOI Listing
September 2014

X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

J Inherit Metab Dis 2014 Sep 1;37(5):715-33. Epub 2014 May 1.

Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9713-8DOI Listing
September 2014

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Hum Mutat 2014 Sep 15;35(9):1128-35. Epub 2014 Jul 15.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22609DOI Listing
September 2014

Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.

Pediatr Neurol 2014 Jul 21;51(1):133-7. Epub 2014 Feb 21.

Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.02.011DOI Listing
July 2014

Mutations in RARS cause hypomyelination.

Ann Neurol 2014 Jul 16;76(1):134-9. Epub 2014 May 16.

Department of Child Neurology, VU University Medical Center, Amsterdam; Neuroscience Campus Amsterdam, Amsterdam.

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http://doi.wiley.com/10.1002/ana.24167
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http://dx.doi.org/10.1002/ana.24167DOI Listing
July 2014

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

Biochim Biophys Acta 2014 Jun 20;1840(6):2070-9. Epub 2014 Feb 20.

Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands; Neuroscience Campus, VU University Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2014.02.012DOI Listing
June 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
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http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Dev Med Child Neurol 2014 May 23;56(5):498-502. Epub 2013 Nov 23.

Department of Neurology, The Royal Children's Hospital, Melbourne, Vic, Australia.

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http://dx.doi.org/10.1111/dmcn.12346DOI Listing
May 2014

Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid.

J Inherit Metab Dis 2014 May 16;37(3):327-32. Epub 2014 Jan 16.

Metabolic Unit, Clinical Chemistry, VUmc Medical Center, The Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-013-9673-4DOI Listing
May 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

Gene 2014 Jan 18;533(2):488-93. Epub 2013 Oct 18.

Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands; Neuroscience Campus, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.gene.2013.10.008DOI Listing
January 2014

Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.

Turk J Pediatr 2013 Mar-Apr;55(2):198-202

Division of Pediatric Hematology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

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December 2013

Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy.

J Child Neurol 2013 Mar 7;28(3):396-8. Epub 2012 May 7.

Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.

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http://journals.sagepub.com/doi/10.1177/0883073812444313
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http://dx.doi.org/10.1177/0883073812444313DOI Listing
March 2013

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine.

FEBS Lett 2012 Oct 29;586(20):3653-7. Epub 2012 Aug 29.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1016/j.febslet.2012.08.020
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http://dx.doi.org/10.1016/j.febslet.2012.08.020DOI Listing
October 2012

Progress in understanding 2-hydroxyglutaric acidurias.

J Inherit Metab Dis 2012 Jul 6;35(4):571-87. Epub 2012 Mar 6.

Metabolic Unit - Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-012-9462-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388262PMC
July 2012

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

Mol Genet Metab 2012 Apr 6;105(4):596-601. Epub 2012 Jan 6.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.022DOI Listing
April 2012

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Mol Genet Metab 2012 Apr 20;105(4):684-6. Epub 2012 Jan 20.

INSERM, U910, Aix-Marseille Université, Marseille, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.011DOI Listing
April 2012

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

J Inherit Metab Dis 2012 Jan 10;35(1):151-7. Epub 2011 Jun 10.

Reference Center for Inherited Metabolic Disorders (MaMEA), Necker-Enfants Malades Hospital, Paris Descartes University, 149 Rue de Sèvres, 75743 Paris Cedex, France.

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http://dx.doi.org/10.1007/s10545-011-9358-9DOI Listing
January 2012

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

Mol Genet Metab 2012 Jan 6;105(1):155-8. Epub 2011 Oct 6.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.037DOI Listing
January 2012

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.

Pediatr Neurol 2012 Jan;46(1):39-41

Unidade de Doenças Metabólicas, Centro de Desenvolvimento Luís Borges, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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January 2012

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.

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Department of Pathology, Haartman Institute, University of Helsinki, Finland.

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http://doi.wiley.com/10.1002/ajmg.b.31180
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Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

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January 2011

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

Mol Genet Metab 2010 Dec 26;101(4):409-12. Epub 2010 Aug 26.

Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, UBC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2010.08.016DOI Listing
December 2010

X-linked creatine transporter deficiency presenting as a mitochondrial disorder.

J Child Neurol 2010 Aug 25;25(8):1009-12. Epub 2010 May 25.

Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.

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August 2010

Creatine transporter deficiency in two half-brothers.

Am J Med Genet A 2010 Aug;152A(8):1979-83

Division of Medical Genetics, ARUP Inst Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah.

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August 2010

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

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Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA.

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April 2010

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

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Clinical Research Institute, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Japan.

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Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.

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Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744817PMC
October 2009

Transaldolase deficiency in two new patients with a relative mild phenotype.

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Clinic of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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May 2009