Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia (Q28211217)

2

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Akiko Ichinohe

3

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Tomoki Maeda

4

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Rozalia Kalmanchey

5

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György Fekete

6

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Suzan Z Berg

7

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Jim Filiano

8

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Yoko Aoki

9

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Yoichi Suzuki

10

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Tatsuro Izumi

11

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Yoichi Matsubara

Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate

12

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language of work or name

English

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publication date

November 2002

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published in

Annals of Neurology

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volume

52

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issue

5

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page(s)

643-6

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cites work

1 reference

Hyperglycinemia: A Defect in Glycine Cleavage Reaction

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Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

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Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

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Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

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Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

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A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

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Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia

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Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts

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Structure and chromosomal localization of the aminomethyltransferase gene (AMT)

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Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia

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Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

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Transient neonatal hyperglycinemia

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Transient nonketotic hyperglycinemia in neonates

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1 reference

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency

21 January 2018

1 reference

Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism

21 January 2018

1 reference

Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures

21 January 2018

1 reference