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PMID: 1405478 Published · ppublish English Case Reports Journal Article

Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.

Journal of inherited metabolic disease ·Vol. 15 ·No. 3 ·1992-00-00 ·Pages 395-8

Burlina AB, Bachmann C, Wermuth B, Bordugo A, Ferrari V, Colombo JP, Zacchello F

Abstract

暂无摘要

MeSH Terms
Acetyltransferases/deficiency Amino-Acid N-Acetyltransferase Ammonia/blood Arginine/therapeutic use Benzoates/therapeutic use Benzoic Acid Brain/pathology Dietary Proteins/administration & dosage Female Humans Infant Magnetic Resonance Imaging Movement Disorders/enzymology,pathology Orotic Acid/urine
Chemicals
Benzoates Dietary Proteins Orotic Acid Ammonia Benzoic Acid Arginine Acetyltransferases Amino-Acid N-Acetyltransferase NAGS protein, human
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Burlina A B
Department of Pediatrics, University of Padua, Padova, Italy.
Bachmann C
Wermuth B
Bordugo A
Ferrari V
Colombo J P
Zacchello F
References (6)
6 references, click to expand
  1. N-Acetylglutamate synthetase: enzyme assay in human liver.
    J Clin Chem Clin Biochem. 1982 May;20(5):325-9 PMID: 7108453
  2. Late-onset form of partial N-acetylglutamate synthetase deficiency.
    Eur J Pediatr. 1990 Jun;149(9):634-6 PMID: 2373115
  3. N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.
    Eur J Pediatr. 1991 Mar;150(5):353-6 PMID: 2044610
  4. N-acetylglutamate synthetase deficiency, a second patient.
    J Inherit Metab Dis. 1988;11(2):191-3 PMID: 3139931
  5. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.
    N Engl J Med. 1981 Feb 26;304(9):543 PMID: 7453791
  6. Determination of urinary orotate excretion by high-performance liquid chromatography.
    J Chromatogr. 1989 Dec 29;497:101-7 PMID: 2625447
Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1007/BF02435986
Published
1992-00-00
Pages
395-8
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1007/BF02435986 View journal details
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