Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

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http://www.wikidata.org/entity/Q44483690
Suggested guidelines for the diagnosis and management of urea cycle disordersArgininosuccinate synthase: at the center of arginine metabolismDeciphering the link between PI3K and PAK: An opportunity to target key pathways in pancreatic cancer?Leishmania donovani argininosuccinate synthase is an active enzyme associated with parasite pathogenesisSlc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemiaKinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementationTwo hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utilityFavorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.Argininosuccinate synthetase regulates hepatic AMPK linking protein catabolism and ureagenesis to hepatic lipid metabolism.Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Neuropsychiatric manifestations in late-onset urea cycle disorder patients.Citrullinaemia type I: a common mutation in the Pacific Island population.ILDR2 has a negligible role in hepatic steatosis.
P2860

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Item
http://www.wikidata.org/entity/Q44483690
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
@zh-my
2003年学术文章
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2003年學術文章
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2003年學術文章
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2003年學術文章
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name
Identification of 16 novel mut ...... ssical citrullinemia patients.
@en
Identification of 16 novel mut ...... ssical citrullinemia patients.
@nl
type
label
Identification of 16 novel mut ...... ssical citrullinemia patients.
@en
Identification of 16 novel mut ...... ssical citrullinemia patients.
@nl
prefLabel
Identification of 16 novel mut ...... ssical citrullinemia patients.
@en
Identification of 16 novel mut ...... ssical citrullinemia patients.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Identification of 16 novel mut ...... ssical citrullinemia patients.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698