(Q28362171)

2

0 references

Y Takei

3

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T Ikegami

4

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Y Hashikura

5

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S Kawasaki

6

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M Iwai

7

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K Kobayashi

8

0 references

T Saheki

Journal of Neurology, Neurosurgery and Psychiatry

9

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language of work or name

English

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publication date

November 2001

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published in

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volume

71

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issue

5

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page(s)

663-70

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cites work

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

1 reference

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Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia

20 March 2017

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Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

20 March 2017

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Type II citrullinemia in an elderly patient treated with living related partial liver transplantation

29 September 2017

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29 September 2017

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Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

29 September 2017

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Orthotopic liver transplantation for urea cycle enzyme deficiency

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Orthotopic liver transplantation in liver-based metabolic disorders

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Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases

27 November 2018

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Pseudoulegyric type of hepatocerebral disease

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12 December 2020

A CONTRIBUTION TO THE CLINICAL AND HISTOPATHOLOGICAL PROBLEM ON THE HEPATOCEREBRAL DISEASES WITH SPECIAL REFERENCE TO "PSEUDO-ULEGYRIA"

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12 December 2020

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

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12 December 2020

Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia

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12 December 2020

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

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Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria

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Liver transplantation for ornithine transcarbamylase deficiency in a girl

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Donor hepatectomy for living related partial liver transplantation

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12 December 2020

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia

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12 December 2020

Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation

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12 December 2020

Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia

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12 December 2020

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12 December 2020

[An autopsied case of the "pseudoulegyria type" of the hepatocerebral disease]

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12 December 2020