다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기
AI-Helper
Deficiency of any of the five enzymes in the urea cycle results in the accumulation of ammonia and leads to encephalopathy. Episodes of encephalopathy and associated symptoms are unpredictable and, if untreated, are lethal or produce devastating neurologic sequelae in long-term survivors. Although t...
N Engl J Med Arn 322 1652 1990 10.1056/NEJM199006073222307 Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: A cause of postpartum coma
J Biol Chem Barbosa 266 5286 1991 10.1016/S0021-9258(19)67785-9 Analysis of naturally occuring and site-directed mutations in the argininosuccinate lyase gene
Pediatr Res Batshaw 46 588 1999 10.1203/00006450-199911000-00016 Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency
Beaudet 161 1986 Advances in Human Genetics The human argininosuccinate synthetase locus and citrullinemia
Brusilow 1187 1995 The Metabolic and Molecular Bases of Inherited Disease Urea cycle enzymes
Pediatr Res Brusilow 29 147 1991 10.1203/00006450-199102000-00009 Phenylacetyglutamine may replace urea as a vehicle for waste nitrogen excretion
Exp Cel Res Carrit 106 71 1997 10.1016/0014-4827(77)90242-7 Chromosome assignement of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids
J Pediatr Cederbaum 90 569 1977 10.1016/S0022-3476(77)80368-5 Hyperargininemia
J Pediatr Finkelstein 117 897 1990 10.1016/S0022-3476(05)80129-5 Late-onset ornithine transcarbamylase deficiency in male patients
Am J Human Genet Fleischer 35 85 1983 Citrullinemia: Prenatal diagnosis of an affected fetus
Am J Human Genet Fleischer 31 439 1979 Argininosuccinic aciduria: Prenatal studies in a family at risk
Pediatr Res Flick 20 239A 1986 Hepatic involvement in argininosuccinase deficiency
N Engl J Med Hauser 322 1641 1990 10.1056/NEJM199006073222305 Allopurinol-induced orotodinuria: A test for mutations at the ornithine carbamoyltransferase locus in women
J Pediatr Hudak 107 712 1985 10.1016/S0022-3476(85)80398-X Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation
Hum Genet Kobayashi 96 454 1995 10.1007/BF00191806 Nature and frequency of mutations in the argininosuccinate synthetase gene that causes classical citrullinemia
J Pediatr Labrecque 94 580 1979 10.1016/S0022-3476(79)80014-1 Heritable urea cycle enzyme deficiency-liver disease in 16 patients
N Engl J Med Maestri 335 855 1996 10.1056/NEJM199609193351204 Long-term treatment of girls with ornithine transcarbamylase deficiency
J Pediatr Maestri 119 923 1992 10.1016/S0022-3476(05)83044-6 Prospective treatment of urea cycle disorders
Proc Natl Sci U S A McGinnes 81 4480 1984 10.1073/pnas.81.14.4480 Interallelic complementation in an inborn error of metabolism: Genetic heterogeneity in argininosuccinate lyase deficiency
Physiol Rev Meijer 70 701 1990 10.1152/physrev.1990.70.3.701 Nitrogen metabolism and ornithine cycle function
Annu Rev Nutr Morris 12 81 1993 10.1146/annurev.nu.12.070192.000501 Regulation of enzymes of urea and arginine synthesis
N Engl J Med Msall 310 1500 1984 10.1056/NEJM198406073102304 Neurologic outcome in children with inborn errors of urea synthesis
Proc Nat Acad Sci U S A Naylor 75 6159 1978 10.1073/pnas.75.12.6159 Argininosuccinic aciduria: Assignment of the argininosuccinate lyase gene to the pter-q22 region of chromosome 7 by bioautography
New Engl J Med Plochl 341 921 1999 10.1056/NEJM199909163411214 Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency [letter]
J Inherit Metab Dis Rabier 14 277 1991 10.1007/BF01811681 Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies
N Engl J Med Rowe 314 541 1986 10.1056/NEJM198602273140903 Natural history of symptomatic partial ornithine transcarbamylase deficiency
Pediatrics Schewerle 91 995 1993 10.1542/peds.91.5.995 Arginase deficiency presenting as cerebral palsy
Eur J Pediatr Schubiger 150 353 1991 10.1007/BF01955939 N-acetylglutamate synthetase deficiency: Diagnosis, management and follow-up of a rare disorder of ammonia detoxification
Shih 367 1976 The Urea Cycle Hereditary urea-cycle disorders
The Scientist Smaglik 13 1 1999 After gene therapy death: Investigators ponder what went wrong
Am J Hum Genet Sparkes 39 186 1986 The gene for human liver arginase (ARGI) is assigned to chromosome band 6q23
Semin Liver Dis Strom 19 39 1999 10.1055/s-2007-1007096 Hepatocyte transplantation for the treatment of human disease
Cytogenet Cell Genet Summar 71 166 1995 10.1159/000134124 Physical and linkage mapping of human carbamylphosphate synthetase I and reassignment from 2p to 2q35
N Engl J Med Tuchman 320 1498 1989 10.1056/NEJM198906013202219 Persistent acitrullinemia after liver transplantation for carbamoyl-phosphate synthetase deficiency
J Inherit Metab Dis Tuchman 21 suppl 1 40 1998 10.1023/A:1005353407220 The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
Hum Genet Uchino 96 255 1995 10.1007/BF00210403 Molecular basis of phenotypic variation in patients with argininemia
J Inherit Metab Dis Whitington 21 suppl 1 112 1998 10.1023/A:1005317909946 Liver transplantation for the treatment of urea cycle disorders
Arch Pathol Lab Med Zimmerman 110 136 1986 Severe liver fibrosis in argininosuccinic aciduria
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
Copyright KISTI. All Rights Reserved.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.