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18 in total

1. Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.

Authors: E D Goldstein; R Cannistraro; P S Atwal; J F Meschia
Journal: Neurohospitalist Date: 2017-09-12

2. Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

Authors: Dita Musalkova; Eva Sticova; Martin Reboun; Jitka Sokolova; Jakub Krijt; Jitka Honzikova; Jiri Gurka; Magdalena Neroldova; Tomas Honzik; Jiri Zeman; Milan Jirsa; Lenka Dvorakova; Martin Hrebicek
Journal: Virchows Arch Date: 2018-04-06 Impact factor: 4.064

3. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Authors: Jin-Ho Choi; Beom Hee Lee; Ja Hye Kim; Gu-Hwan Kim; Yoo-Mi Kim; Jahyang Cho; Chong-Kun Cheon; Jung Min Ko; Jung Hyun Lee; Han-Wook Yoo
Journal: J Hum Genet Date: 2015-09 Impact factor: 3.172

4. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

Authors: I Matsuda; T Matsuura; A Nishiyori; S Komaki; R Hoshide; T Matsumoto; M Funakoshi; K Kiwaki; F Endo; A Hata; M Shimadzu; M Yoshino
Journal: J Med Genet Date: 1996-08 Impact factor: 6.318

5. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.

Authors: M A García-Pérez; C Climent; P Briones; M A Vilaseca; M Rodés; V Rubio
Journal: J Inherit Metab Dis Date: 1997-11 Impact factor: 4.982

Seven new mutations in the human ornithine transcarbamylase gene.

1. Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.

2. Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

3. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

4. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

5. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.

6. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.

7. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

8. Identification of four novel splice site mutations in the ornithine transcarbamylase gene.

9. Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.

10. A Fifth of the Protein World: Rossmann-like Proteins as an Evolutionarily Successful Structural unit.