Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia (Q28294916)

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16 January 2020

title

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia (English)

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16 January 2020

6

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16 January 2020

author name string

Shigeo Kure

1

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16 January 2020

Kumi Kato

2

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16 January 2020

Agirios Dinopoulos

3

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16 January 2020

Chuck Gail

4

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16 January 2020

Ton J DeGrauw

5

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16 January 2020

Vladimir Bzduch

7

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16 January 2020

Rozalia Kalmanchey

8

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16 January 2020

Gyorgy Fekete

9

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16 January 2020

Alex Trojovsky

10

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16 January 2020

Barbara Plecko

11

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16 January 2020

Galen Breningstall

12

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16 January 2020

Jun Tohyama

13

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16 January 2020

Yoko Aoki

14

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16 January 2020

Yoichi Matsubara

15

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16 January 2020

language of work or name

English

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publication date

1 April 2006

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16 January 2020

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16 January 2020

volume

27

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16 January 2020

page(s)

343-352

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16 January 2020

issue

4

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Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

16 January 2020

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A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

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Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia

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Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein

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

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Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12

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Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia

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7 January 2021

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

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7 January 2021

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

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7 January 2021

A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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