Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study-Reference-Cited by-同舟云学术

Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

Published:2019-07-17 Issue:5 Volume:42 Page:878-889
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Rijt Willemijn J.¹,Ferdinandusse Sacha²,Giannopoulos Panagiotis¹,Ruiter Jos P. N.²,Boer Lonneke³,Bosch Annet M.⁴,Huidekoper Hidde H.⁵,Rubio‐Gozalbo M. Estela⁶,Visser Gepke⁷,Williams Monique⁵,Wanders Ronald J. A.²,Derks Terry G. J.¹

Affiliation:

1. Division of Metabolic DiseasesBeatrix Children's Hospital, University Medical Center Groningen, University of Groningen Groningen the Netherlands

2. Department of Clinical ChemistryLaboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam Amsterdam the Netherlands

3. Department of Pediatrics, Radboud University Medical Center Nijmegen the Netherlands

4. Department of Pediatrics, Division of Metabolic DisordersAmsterdam UMC, University of Amsterdam Amsterdam the Netherlands

5. Department of PediatricsCenter for Lysosomal and Metabolic Diseases, Erasmus Medical Center Rotterdam the Netherlands

6. Department of Pediatrics and Clinical GeneticsMaastricht University Medical Center Maastricht the Netherlands

7. Department of Metabolic DiseasesWilhelmina Children's Hospital, University Medical Center Utrecht Utrecht the Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12147

Reference33 articles.

1. Why we should care about ultra-rare disease

2. Cyclic vomiting syndrome masking a fatal metabolic disease

3. Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II

4. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2

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