A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing-Reference-Cited by-同舟云学术

A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

Published:2020-02-05 Issue:4 Volume:182 Page:780-784
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

D'Gama Alissa M.¹²³^ORCID,Brucker William J.¹,Zhang Tian¹²,Gubbels Cynthia S.¹²³,Ferdinandusse Sacha⁴,Shi Jiahai⁵,Grant Patricia Ellen⁶⁷,VanNoy Grace³,Genetti Casie A.¹²,Juusola Jane⁸,Yu Timothy W.¹²³,Kritzer Amy¹,Agrawal Pankaj B.¹²³⁶

Affiliation:

1. Division of Genetics and Genomics, Department of MedicineBoston Children's Hospital, Harvard Medical School Boston Massachusetts

2. The Manton Center for Orphan Disease ResearchBoston Children's Hospital Boston Massachusetts

3. The Broad Institute of MIT and Harvard Cambridge Massachusetts

4. Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical CentersUniversity of Amsterdam Amsterdam The Netherlands

5. Department of Biomedical SciencesCity University of Hong Kong Kowloon Hong Kong

6. Division of Newborn Medicine, Department of MedicineBoston Children's Hospital, Harvard Medical School Boston Massachusetts

7. Department of RadiologyBoston Children's Hospital, Harvard Medical School Boston Massachusetts

8. Clinical GenomicsGeneDx, Inc. Gaithersburg Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61498

Reference18 articles.

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2. Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

3. Beta‐hydroxyisobutyryl coenzyme A deacylase deficiency: A defect in valine metabolism associated with physical malformations;Brown G. K.;Pediatrics,1982

4. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

5. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

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3. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies;European Journal of Neurology;2022-08-09

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