ALG11-CDG

Autor: Jaak Jaeken, Katrien Jansen, Gert Matthijs, L. De Meirleir, Hcmt Prinsen, I. Cuppen, Liesbeth Keldermans, François Foulquier, P.M. van Hasselt, Luc Régal

Publikováno v: Molecular Genetics and Metabolism Reports, 2, 16. Elsevier BV
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 16-19 (2015)
Molecular Genetics and Metabolism Reports

We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2148c0822f9d761146ea59ea508e06c4
https://doi.org/10.1016/j.ymgmr.2014.11.006

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.

Autor: Rumping L; Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands., Pouwels PJW; Department of Radiology and Nuclear Medicine and Amsterdam Neuroscience Amsterdam UMC Amsterdam the Netherlands., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center Emma Children's Hospital, Amsterdam UMC Amsterdam the Netherlands.; Amsterdam Neuroscience, Cellular and Molecular Mechanisms Vrije Universiteit Amsterdam Amsterdam the Netherlands., Rehmann H; Department of Energy and Biotechnology Flensburg University of Applied Sciences Flensburg Germany., Wamelink MMC; Department of Clinical Chemistry, Metabolic Unit, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam UMC location Vrije Universiteit Amsterdam the Netherlands., Waisfisz Q; Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands., Jans JJM; Department of Genetics, Section Metabolic Diagnostics UMC Utrecht Utrecht the Netherlands., Prinsen HCMT; Department of Genetics, Section Metabolic Diagnostics UMC Utrecht Utrecht the Netherlands., van de Kamp JM; Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands., van Hasselt PM; Department of Genetics, Section Metabolic Diagnostics UMC Utrecht Utrecht the Netherlands.

Publikováno v: JIMD reports [JIMD Rep] 2023 Feb 24; Vol. 64 (3), pp. 217-222. Date of Electronic Publication: 2023 Feb 24 (Print Publication: 2023).

Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.

Autor: Coene KLM; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands., Timmer C; Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Goorden SMI; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Ten Hoedt AE; Department of Paediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands., Janssen MCH; Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands., Rennings AJM; Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands., Prinsen HCMT; Section Metabolic Diagnostics, Department of Genetics UMC Utrecht Utrecht The Netherlands., Wamelink MMC; Metabolic Laboratory, Department of Clinical Chemistry Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands., Ruijter GJG; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands., Körver-Keularts IMLW; Laboratory of Biochemical Genetics, Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands., Heiner-Fokkema MR; Laboratory of Metabolic Diseases University of Groningen, University Medical Center Groningen Groningen The Netherlands., van Spronsen FJ; Division of Metabolic Diseases Beatrix Children's Hospital, University Medical Centre Groningen Groningen The Netherlands., Hollak CE; Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Bosch AM; Department of Paediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Huigen MCDG; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands.

Publikováno v: JIMD reports [JIMD Rep] 2020 Nov 22; Vol. 58 (1), pp. 70-79. Date of Electronic Publication: 2020 Nov 22 (Print Publication: 2021).

Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.

Autor: van den Broek BTA; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: b.t.a.vandenbroek-2@umcutrecht.nl., van Egmond-Ebbeling MB; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: M.B.vanEgmond-Ebbeling@umcutrecht.nl., Achterberg JA; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Boelens JJ; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Pediatric Blood and Marrow Transplantation Program, Memorial Sloan Kettering Cancer Center, New York, New York., Vlessert IC; Section of Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Prinsen HCMT; Section of Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Doorn J; Section of Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Hasselt PM; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: P.vanHasselt@umcutrecht.nl.

Publikováno v: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation [Biol Blood Marrow Transplant] 2020 May; Vol. 26 (5), pp. 928-935. Date of Electronic Publication: 2019 Nov 29.

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.

Autor: Haijes HA; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Pediatrics, Section Metabolic Disorders, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Prinsen HCMT; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., de Sain-van der Velden MGM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Verhoeven-Duif NM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Hasselt PM; Department of Pediatrics, Section Metabolic Disorders, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Jans JJM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Dec 27; Vol. 22, pp. 100551. Date of Electronic Publication: 2019 Dec 27 (Print Publication: 2020).