Ornithincarbamoyltransferase-Mangel

Krieger I et al. (1979) Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease).

Tripp JH et al. (1981) Sodium valproate and ornithine carbamyl transferase deficiency.

Levin B et al. (1969) Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.

Herrin JT et al. (1969) Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.

Bruton CJ et al. (1970) Hereditary hyperammonaemia.

Matsuda I et al. (1971) Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.

Sunshine P et al. (1972) Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.

Cathelineau L et al. (1974) Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.

Qureshi IA et al. (1979) Ornithine transcarbamylase deficiency in mutant mice I. Studies on the characterization of enzyme defect and suitability as animal model of human disease.

Short EM et al. (1973) Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

Campbell AG et al. (1973) Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.

Rodeck CH et al. (1982) Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency.

Thaler MM et al. (1974) Reye's syndrome due to a novel protein-tolerant variant of ornithine-transcarbamylase deficiency.

Scott CR et al. (1972) X-linked transmission of ornithine-transcarbamylase deficiency.

Campbell AG et al. (1971) Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.

Kornfeld M et al. (1985) Neuropathology of ornithine carbamyl transferase deficiency.

Goldblum OM et al. (1986) Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency.

Rowe PC et al. (1986) Natural history of symptomatic partial ornithine transcarbamylase deficiency.

Gilchrist JM et al. (1987) Ornithine transcarbamylase deficiency: adult onset of severe symptoms.

Fox J et al. (1986) Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.

Hamano Y et al. (1988) Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency.

Drogari E et al. (1988) Late onset ornithine carbamoyl transferase deficiency in males.

Amir J et al. (1982) Intracranial haemorrhage in siblings and ornithine transcarbamylase deficiency.

Ricciuti FC et al. (1976) X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Yudkoff M et al. (1996) In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.

Maestri NE et al. (1996) Long-term treatment of girls with ornithine transcarbamylase deficiency.

Morsy MA et al. (1996) Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.

Clayton-Smith J et al. (1995) Fetal valproate syndrome.

Shapiro JM et al. (1980) Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency.

Batshaw ML et al. (1980) Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

Kline JJ et al. (1981) Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency.

Yudkoff M et al. (1980) Ornithine transcarbamylase deficiency in a boy with normal development.

Michels VV et al. (1982) Ornithine transcarbamylase deficiency: long-term survival.

Bowling F et al. (1999) Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

Batshaw ML et al. (1982) Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

Snodgrass PJ et al. (1978) White cell ornithine transcarbamylase activity cannot detect the liver enzyme deficiency.

Stoll C et al. (1978) [A new family with mutation of the structural gene of human ornithine carbamoyltransferase].

Harding BN et al. (1984) Ornithine carbamoyl transferase deficiency: a neuropathological study.

Oizumi J et al. (1984) Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.

Holzgreve W et al. (1984) Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

Rosenberg LE et al. (1983) Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme.

Hokanson JT et al. (1978) Carrier detection in ornithine transcarbamylase deficiency.

Brusilow SW et al. (1984) Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.

Hoogenraad N et al. (1983) Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits.

Gelehrter TD et al. (1975) Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine.

Anadiotis G et al. (2001) Ornithine transcarbamylase deficiency and pancreatitis.

None (2001) Ornithine carbamoyltransferase deficiency.

McCullough BA et al. (2000) Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

Faiella A et al. (2000) A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression.

Shih VE et al. (1978) Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

Yorifuji T et al. (1998) X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

Tuchman M et al. (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

None (1993) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Ardinger HH et al. (1988) Verification of the fetal valproate syndrome phenotype.

DeMars R et al. (1976) Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.

Veres G et al. (1987) The molecular basis of the sparse fur mouse mutation.

Wareham KA et al. () Age related reactivation of an X-linked gene.

Maddalena A et al. (1988) Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Ohtake A et al. (1986) Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

Fox JE et al. (1986) Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

Rozen R et al. () Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

Maddalena A et al. (1988) Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

Grompe M et al. (1991) Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

Lee JY et al. (2002) A case of acrodermatitis enteropathica-like dermatosis caused by ornithine transcarbamylase deficiency.

Cavard C et al. (1988) Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line.

Winter RM et al. (1987) Fetal valproate syndrome: is there a recognisable phenotype?

Kodama H et al. (1986) Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.

Schwartz M et al. (1986) Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.

Nussbaum RL et al. (1986) New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

Pembrey ME et al. (1985) Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

Kay JD et al. (1986) Valproate toxicity and ornithine carbamoyltransferase deficiency.

Old JM et al. (1985) Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

Arn PH et al. (1990) Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

Hauser ER et al. (1990) Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.

Pelet A et al. (1990) Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Finkelstein JE et al. (1990) Late-onset ornithine transcarbamylase deficiency in male patients.

Hopkins IJ et al. (1969) Hyperammonaemia due to ornithine transcarbamylase deficiency.

Nagata N et al. (1991) Estimated frequency of urea cycle enzymopathies in Japan.

Matsuda I et al. (1991) Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency.

Lien J et al. (2007) Fatal initial adult-onset presentation of urea cycle defect.

Maestri NE et al. (1991) Prospective treatment of urea cycle disorders.

Honeycutt D et al. (1992) Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy.

RUSSELL A et al. (1962) Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.

Wilson CJ et al. (2001) Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.

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