(Q50335724)

5 March 2018

title

A prevalent mutation for galactosemia among black Americans. (English)

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5 March 2018

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Lai K

1

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5 March 2018

Langley SD

2

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5 March 2018

Singh RH

3

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5 March 2018

Dembure PP

4

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5 March 2018

Hjelm LN

5

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5 March 2018

Elsas LJ 2nd

6

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5 March 2018

language of work or name

English

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publication date

1 January 1996

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5 March 2018

The Journal of Pediatrics

published in

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5 March 2018

volume

128

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5 March 2018

issue

1

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5 March 2018

page(s)

89-95

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5 March 2018

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

A molecular approach to galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

The human galactose-1-phosphate uridyltransferase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

Liver galactose-l-phosphate uridyl transferase: activity in normal and galactosemic subjects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of 14C-labeled galactose-1-phosphate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

Practical methods to estimate whole body leucine oxidation in maple syrup urine disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

A minor tyrosine phosphorylation site located within the CAIN domain plays a critical role in regulating tissue-specific transformation by erbB kinase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970432-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(96)70432-8

1 reference

5 March 2018

1 reference

5 March 2018