High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency-Reference-Cited by-同舟云学术

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

Published:2019-12-13 Issue:1 Volume:51 Page:17-24
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Higashimoto Tomoyasu¹,Kim Alexander Y.¹,Ogawa Jessica T.¹,Sloan Jennifer L.²,Almuqbil Mohammed A.¹³⁴,Carlson Julia M.⁵,Manoli Irini²,Venditti Charles P.²,Gunay‐Aygun Meral¹,Wang Tao¹^ORCID

Affiliation:

1. Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland

2. Medical Genomics and Metabolic Genetics Branch National Institute of Human Genome Research, National Institutes of Health Bethesda Maryland

3. Division of Pediatric Neurology King Saud bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia

4. King Abdullah International Medical Research Center King Abdullah Specialist Children's Hospital – Ministry of National Guard Riyadh Saudi Arabia

5. Department of Neurology Johns Hopkins University Baltimore Maryland

Funder

National Institute of General Medical Sciences

National Human Genome Research Institute

Johns Hopkins University

NIH

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12087

Reference25 articles.

1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

2. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

3. Disorders of intracellular cobalamin metabolism;Sloan J;GeneReviews,2018

4. Cobalamin C defect: natural history, pathophysiology, and treatment

5. Molecular picture of cobalamin C/D defects before and after newborn screening era

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