1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency-Reference-Cited by-同舟云学术

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1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

Published:2008-09 Issue:1-2 Volume:95 Page:21-30
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Gropman A.L.,Fricke S.T.,Seltzer R.R.,Hailu A.,Adeyemo A.,Sawyer A.,van Meter J.,Gaillard W.D.,McCarter R.,Tuchman M.,Batshaw M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference40 articles.

1. Estimated frequency of urea cycle enzymopathies in Japan;Nagata;Am. J. Med. Genet.,1991

2. Incidence of inborn errors of metabolism in British Columbia 1969–1996;Applegarth;Pediatrics,2000

3. The Metabolic and Molecular Bases of Inherited Disease,2001

4. Cloning and expression of the human N-acetylglutamate synthase gene;Caldovic;Biochem. Biophys. Res. Commun.,2002

5. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia;Caldovic;Hum. Genet.,2003

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1. Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency;Molecular Genetics and Metabolism Reports;2022-12

2. Fifteen years of urea cycle disorders brain research: Looking back, looking forward;Analytical Biochemistry;2022-01

3. MRI and In Vivo Spectroscopy of the Brain;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

4. Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia;Molecular Genetics and Metabolism Reports;2021-06

5. Multimodal imaging in urea cycle-related neurological disease – What can imaging after hyperammonemia teach us?;Translational Science of Rare Diseases;2020-08-03

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