Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications-Reference-Cited by-同舟云学术

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Published:2019-08-07 Issue:5 Volume:42 Page:730-744
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Haijes Hanneke A.¹²^ORCID,Jans Judith J. M.¹,Tas Simone Y.²,Verhoeven‐Duif Nanda M.¹,Hasselt Peter M.²

Affiliation:

1. Section Metabolic Diagnostics, Department of GeneticsUniversity Medical Centre Utrecht, Utrecht University Utrecht The Netherlands

2. Section Metabolic Diseases, Department of Child HealthWilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University Utrecht The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12129

Reference117 articles.

1. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism I;Childs B;Pediatrics,1961

2. Idiopathic hyperglycinemia: a new disorder of amino acid metabolism. II. The concentrations of other amino acids in the plasma and their modification by the administration of leucine;Nyhan WL;Pediatrics,1961

3. The Natural History of the Inherited Methylmalonic Acidemias

4. L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.

5. Causes of and diagnostic approach to methylmalonic acidurias

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