(Q44321522)

1 December 2017

title

Verbal dyspraxia and galactosemia (English)

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developmental coordination disorder

1 December 2017

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1 reference

Amy Leigh Webb

1

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1 December 2017

Rani H Singh

series ordinal

2

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1 December 2017

Mary Jane Kennedy

series ordinal

3

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1 December 2017

Louis J Elsas

series ordinal

4

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1 December 2017

language of work or name

English

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publication date

1 March 2003

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1 December 2017

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1 December 2017

volume

53

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1 December 2017

issue

3

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1 December 2017

page(s)

396-402

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000049666.19532.1b

1 December 2017

exact match

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cites work

The molecular biology of galactosemia

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

A prevalent mutation for galactosemia among black Americans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Risk factors for premature ovarian failure in females with galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Galactose-1-phosphate in the pathophysiology of galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Overexpression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

21 January 2018

Galactose and cataract

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

A mouse model of galactose-induced cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

The role of polyols in the pathophysiology of hypergalactosemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Proton magnetic resonance spectroscopy of brain metabolites in galactosemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Deficit of uridine diphosphate galactose in galactosaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Verbal dyspraxia in children with galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Quantitative assessment of whole body galactose metabolism in galactosemic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Abnormal glutathione metabolism and increased cytotoxicity caused by H2O2 in human umbilical vein endothelial cells cultured in high glucose medium

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Altered follicle stimulating hormone isoforms in female galactosaemia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Defective galactosylation of serum transferrin in galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049666.19532.1B

10.1203/01.PDR.0000049666.19532.1B

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

1 December 2017

1029898289

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1 reference