Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachN-acetylglutamate synthase: structure, function and defects.Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiencyHyperammonemic encephalopathy in an adenocarcinoma patient managed with carglumic acid
P2860
Q26751169-C78A4A83-EDF2-4589-B0F2-FA52E52CC52DQ33877974-D75BEA07-75A3-458E-82B6-200AAA63D9A2Q34039333-679C2028-4203-4F4E-A3A8-49531AF9EB66Q36925224-95D48C97-69A3-40FB-980F-6E88AF366BC9Q37686965-C1D9A5DA-86BA-409D-9676-9A4DBC9C4561Q37937440-3EA33B37-8FD9-4EF8-8E94-04C173FECC56Q42036213-6901DB8C-2C4A-4AA2-9854-FB1F47C7DF96
P2860
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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2005年學術文章
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name
Misleading diagnosis of partia ...... orrected by mutation analysis.
@en
Misleading diagnosis of partia ...... orrected by mutation analysis.
@nl
type
label
Misleading diagnosis of partia ...... orrected by mutation analysis.
@en
Misleading diagnosis of partia ...... orrected by mutation analysis.
@nl
prefLabel
Misleading diagnosis of partia ...... orrected by mutation analysis.
@en
Misleading diagnosis of partia ...... orrected by mutation analysis.
@nl
P2093
P1433
P1476
Misleading diagnosis of partia ...... orrected by mutation analysis.
@en
P2093
P304
P356
10.1080/08035250410030937
P407
P577
2005-01-01T00:00:00Z