Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency-Reference-Cited by-同舟云学术

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

Author:

Chambliss K. L.¹,Gray R. G. F.²,Rylance G.²,Pollitt R. J.³,Gibson K. M.⁴

Affiliation:

1. ; Department of Pediatrics; University of Texas Southwestern Medical Center; Dallas Texas USA

2. ; Department of Clinical Chemistry; Children's Hospital; Birmingham UK

3. ; Neonatal Screening Laboratory; Children's Hospital; Sheffield UK

4. ; Departments of Molecular and Medical Genetic s and Pediatrics; Oregon Health Sciences University; Portland Oregon USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference14 articles.

2. Beta-hydroxyisobutyryl coenzyme A deacylase deÐciency: a defect in valine metabolism associated with physical malformations;Brown;Pediatrics,1982

4. Molecular basis of methylmalonic semialdehyde dehydrogenase (MMSDH) deficiency;Ding;J Inherit Metab Dis,1999

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