Publications by authors named "Eva Morava"

99Publications

Free virtual issue: Novel paradigms for inborn errors with muscular and central neuropathology.

J Inherit Metab Dis 2020 Sep;43(5):903

Editor-in-Chief, Neuropathology and Applied Neurobiology, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12299DOI Listing
September 2020

Newborn screening: To WES or not to WES, that is the question.

J Inherit Metab Dis 2020 Sep 2;43(5):904-905. Epub 2020 Sep 2.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12303DOI Listing
September 2020

PMM2-CDG caused by uniparental disomy: Case report and literature review.

JIMD Rep 2020 Jul 28;54(1):16-21. Epub 2020 Apr 28.

Department of Clinical Genomics, and Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358672PMC
July 2020

Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial function.

Eur J Neurosci 2020 Jul 9. Epub 2020 Jul 9.

Department of Anatomy, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ejn.14901DOI Listing
July 2020

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.

Eur J Med Genet 2020 Jul 11;63(7):103941. Epub 2020 May 11.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.103941DOI Listing
July 2020

Elevated sorbitol underlies a heritable neuropathy.

Authors:
Eva Morava

Nat Genet 2020 05;52(5):469-470

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-020-0619-0DOI Listing
May 2020

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.

Cell Rep 2020 Apr;31(3):107538

Department of Anatomy, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500 HB Nijmegen, the Netherlands; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905 Rochester, MN, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2020.107538DOI Listing
April 2020

Social media, alternative metrics and inborn errors of metabolism.

J Inherit Metab Dis 2020 May 22;43(3):383-384. Epub 2020 Apr 22.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12239DOI Listing
May 2020

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

Genet Med 2020 02 19;22(2):268-279. Epub 2019 Sep 19.

Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0647-2DOI Listing
February 2020

Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.

Mol Genet Metab 2019 12 26;128(4):409-414. Epub 2019 Aug 26.

Mayo Clinic, Rochester, MN 55905, United States. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192193049
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2019.08.007DOI Listing
December 2019

N-Glycosylation influences human corticosteroid-binding globulin measurements.

Endocr Connect 2019 Aug;8(8):1136-1148

Departments of Cellular and Physiological Sciences and Obstetrics and Gynaecology, The University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EC-19-0242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6686952PMC
August 2019

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Am J Hum Genet 2019 05 11;104(5):835-846. Epub 2019 Apr 11.

Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297193009
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2019.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506806PMC
May 2019

A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions.

Genes (Basel) 2019 02 13;10(2). Epub 2019 Feb 13.

Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN 55905, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10020140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410143PMC
February 2019

The phenotype modifier: is the mitochondrial DNA background responsible for individual differences in disease severity.

J Inherit Metab Dis 2019 01;42(1):3-4

Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12050DOI Listing
January 2019

Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.

J Clin Densitom 2020 Jul - Sep;23(3):340-348. Epub 2018 Dec 21.

Center for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Chronic Diseases, Metabolism and Aging (CHROMETA), KU Leuven, Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10946950183024
Publisher Site
http://dx.doi.org/10.1016/j.jocd.2018.12.006DOI Listing
December 2018

Central nervous involvement is common in PGM1-CDG.

Mol Genet Metab 2018 11 21;125(3):200-204. Epub 2018 Aug 21.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.08.008DOI Listing
November 2018

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Transl Res 2018 09 10;199:62-76. Epub 2018 May 10.

Department of Neurology and Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.trsl.2018.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041963PMC
September 2018

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Electrophoresis 2018 12 2;39(24):3133-3141. Epub 2018 Aug 2.

CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Univ. Lille, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/elps.201800020DOI Listing
December 2018

CDG Therapies: From Bench to Bedside.

Int J Mol Sci 2018 Apr 27;19(5). Epub 2018 Apr 27.

Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://www.mdpi.com/1422-0067/19/5/1304
Publisher Site
http://dx.doi.org/10.3390/ijms19051304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983582PMC
April 2018

Recognizable phenotypes in CDG.

J Inherit Metab Dis 2018 05 13;41(3):541-553. Epub 2018 Apr 13.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-018-0156-5
Publisher Site
http://dx.doi.org/10.1007/s10545-018-0156-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960425PMC
May 2018

Mitochondrial Etiology of Psychiatric Disorders: Is This the Full Story?

JAMA Psychiatry 2018 05;75(5):527

Department Pediatrics, Hayward Genetics Center, Center for Metabolism and Neurodevelopmental Disorders, Tulane University, New Orleans, Louisiana.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamapsychiatry.2018.0018DOI Listing
May 2018

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Pediatr Clin North Am 2018 04;65(2):375-388

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00313955173018
Publisher Site
http://dx.doi.org/10.1016/j.pcl.2017.11.012DOI Listing
April 2018

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.

JIMD Rep 2018 15;42:105-111. Epub 2018 Feb 15.

King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2018_88
Publisher Site
http://dx.doi.org/10.1007/8904_2018_88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226399PMC
February 2018

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Genet Med 2018 04 26;20(4):444-451. Epub 2017 Oct 26.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.125DOI Listing
April 2018

Renal involvement in PMM2-CDG, a mini-review.

Mol Genet Metab 2018 03 28;123(3):292-296. Epub 2017 Nov 28.

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Tulane University Medical School, Department of Pediatrics, New Orleans, LA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.11.012DOI Listing
March 2018

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.

Eur J Hum Genet 2018 05 30;26(5):618-621. Epub 2017 Nov 30.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0044-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945621PMC
May 2018

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

Nutrients 2017 Nov 7;9(11). Epub 2017 Nov 7.

Metabolic Center, University Hospitals Leuven, B-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/nu9111222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707694PMC
November 2017

Congenital disorders of glycosylation (CDG): Quo vadis?

Eur J Med Genet 2018 Nov 25;61(11):643-663. Epub 2017 Oct 25.

Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.10.012DOI Listing
November 2018

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.

BMC Health Serv Res 2017 Sep 26;17(1):682. Epub 2017 Sep 26.

Department of Pediatrics, Center for Metabolic Disease, University Hospital Gasthuisberg, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12913-017-2625-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615629PMC
September 2017

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Am J Med Genet A 2017 Oct 4;173(10):2772-2775. Epub 2017 Aug 4.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.38377
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38377DOI Listing
October 2017

Liver involvement in kidney disease and vice versa.

Pediatr Nephrol 2018 06 23;33(6):957-971. Epub 2017 Jun 23.

Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-017-3715-3DOI Listing
June 2018

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.

Birth Defects Res 2017 Jun 16;109(10):791-804. Epub 2017 May 16.

Department of Anatomy, Embryology and Physiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdr2.1049DOI Listing
June 2017

Three families with mild PMM2-CDG and normal cognitive development.

Am J Med Genet A 2017 Jun 19;173(6):1620-1624. Epub 2017 Apr 19.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444958PMC
June 2017

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

J Clin Endocrinol Metab 2017 Apr;102(4):1375-1386

Université Lille, Centre National de la Recherche Française, UMR 8576-Unité de Glycobiologie Structurale et Fonctionnelle-Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2016-3443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283449PMC
April 2017

False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.

JIMD Rep 2017 12;36:1-5. Epub 2017 Jan 12.

Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Ave., Mailbox #8631, New Orleans, LA, 70112, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2016_34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680284PMC
January 2017

Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management.

Authors:
Eva Morava

J Inherit Metab Dis 2017 01;40(1):1-2

Kindermetabole ziekten, Universiteit Ziekenhuis Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9998-xDOI Listing
January 2017

Autism in patients with propionic acidemia.

Mol Genet Metab 2016 12 31;119(4):317-321. Epub 2016 Oct 31.

Department of Pediatrics, Metabolic Center, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.10.009DOI Listing
December 2016

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.

J Inherit Metab Dis 2016 05 1;39(3):327-329. Epub 2016 Apr 1.

Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, and Metabolic Department, Great Ormond Street Hospital, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9931-3DOI Listing
May 2016

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Am J Med Genet A 2016 Jun 23;170(6):1642-6. Epub 2016 Mar 23.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37628DOI Listing
June 2016

Peer review fraud-it's not big and it's not clever.

J Inherit Metab Dis 2016 Jan 11;39(1):1-2. Epub 2015 Dec 11.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9905-xDOI Listing
January 2016

Quo vadis: the re-definition of "inborn metabolic diseases".

J Inherit Metab Dis 2015 Nov 29;38(6):1003-6. Epub 2015 Sep 29.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9893-xDOI Listing
November 2015

Causes of Death in Adults with Mitochondrial Disease.

JIMD Rep 2016 10;26:103-13. Epub 2015 Sep 10.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864865PMC
May 2016

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.

Transl Res 2015 Dec 8;166(6):639-649.e1. Epub 2015 Aug 8.

Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.trsl.2015.07.005DOI Listing
December 2015

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.

Genet Med 2016 Apr 13;18(4):396-404. Epub 2015 Aug 13.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim2015107
Publisher Site
http://dx.doi.org/10.1038/gim.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752912PMC
April 2016

Next generation mitochondrial disease: change in diagnostics with eyes on therapy.

J Inherit Metab Dis 2015 May;38(3):387-8

Department of Pediatrics, Tulane University Medical School, New Orleans, LA, USA,

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-015-9852-6
Publisher Site
http://dx.doi.org/10.1007/s10545-015-9852-6DOI Listing
May 2015

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

J Inherit Metab Dis 2015 May 17;38(3):467-75. Epub 2015 Feb 17.

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

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10545-014-9796
Web Search
http://link.springer.com/10.1007/s10545-014-9796-2
Publisher Site
http://dx.doi.org/10.1007/s10545-014-9796-2DOI Listing
May 2015

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Eur J Hum Genet 2015 Aug 4;23(8):1051-61. Epub 2015 Feb 4.

1] Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France [2] Département de Génétique Médicale et de Biologie Cellulaire, AP-HM, Hôpital d'Enfants de la Timone, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795109PMC
August 2015

Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.

Mol Genet Metab 2015 Jan 4;114(1):51-4. Epub 2014 Nov 4.

Department of Paediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Geert Grooteplein zuid 10, route 801, 6525 GA Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.10.016DOI Listing
January 2015

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184775PMC
July 2014

Disease severity and clinical outcome in phosphosglucomutase deficiency.

J Inherit Metab Dis 2015 Mar;38(2):207-9

Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Ave, New Orleans, LA, 70112, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9769-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344407PMC
March 2015

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.

Authors:
Eva Morava

Mol Genet Metab 2014 Aug 21;112(4):275-9. Epub 2014 Jun 21.

Tulane University Medical Center, Department of Pediatrics, Hayward Genetics Center, New Orleans, LA, USA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180034PMC
August 2014

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Mol Genet Metab 2014 Aug 21;112(4):310-6. Epub 2014 May 21.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.05.003DOI Listing
August 2014

Multiple phenotypes in phosphoglucomutase 1 deficiency.

N Engl J Med 2014 05;370(21):2051-2

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1403446DOI Listing
May 2014

Congenital disorders of glycosylation: new defects and still counting.

J Inherit Metab Dis 2014 Jul 15;37(4):609-17. Epub 2014 May 15.

Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Ave, New Orleans, LA, 70112, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9720-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141334PMC
July 2014

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Eur J Paediatr Neurol 2014 Jul 28;18(4):511-5. Epub 2014 Feb 28.

Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.01.003DOI Listing
July 2014

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

JIMD Rep 2014 23;16:1-6. Epub 2014 Apr 23.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221300PMC
November 2014

Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.

Clin Dysmorphol 2014 Jul;23(3):77-82

Department of Pediatrics, Tulane University Medical School, Hayward Genetics Center, New Orleans, Louisiana, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000038DOI Listing
July 2014