Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

Item
http://www.wikidata.org/entity/Q28212331
Suggested guidelines for the diagnosis and management of urea cycle disordersArgininosuccinate lyase deficiencyNovel mutations underlying argininosuccinic aciduria in Saudi ArabiaExpanding the phenotype in argininosuccinic aciduria: need for new therapies.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.Cross-sectional observational study of 208 patients with non-classical urea cycle disordersGenetic diseases that predispose to early liver cirrhosis.Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
P2860

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

Item
http://www.wikidata.org/entity/Q28212331
description
2002 nî lūn-bûn
@nan
2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Clinical, enzymatic, and molec ...... sis in five unrelated families
@ast
Clinical, enzymatic, and molec ...... sis in five unrelated families
@en
Clinical, enzymatic, and molec ...... sis in five unrelated families
@nl
type
label
Clinical, enzymatic, and molec ...... sis in five unrelated families
@ast
Clinical, enzymatic, and molec ...... sis in five unrelated families
@en
Clinical, enzymatic, and molec ...... sis in five unrelated families
@nl
prefLabel
Clinical, enzymatic, and molec ...... sis in five unrelated families
@ast
Clinical, enzymatic, and molec ...... sis in five unrelated families
@en
Clinical, enzymatic, and molec ...... sis in five unrelated families
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P356
P1433
P1476
Clinical, enzymatic, and molec ...... sis in five unrelated families
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698