Innovative therapy for Classic Galactosemia - tale of two HTS. (Q34054239)

30 July 2017

title

Innovative therapy for Classic Galactosemia - tale of two HTS. (English)

1 reference

30 July 2017

0 references

M Tang

1

1 reference

30 July 2017

S I Odejinmi

2

1 reference

30 July 2017

H Vankayalapati

3

1 reference

30 July 2017

K J Wierenga

4

1 reference

30 July 2017

K Lai

5

1 reference

30 July 2017

publication date

1 October 2011

1 reference

Molecular Genetics and Metabolism

30 July 2017

published in

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30 July 2017

volume

105

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30 July 2017

issue

1

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30 July 2017

page(s)

44-55

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Structure-activity analysis and cell-based optimization of human galactokinase inhibitors

30 July 2017

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Galactose-1-phosphate in the pathophysiology of galactosemia

5 July 2018

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5 July 2018

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5 July 2018

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Structure of the galactokinase gene of Escherichia coli, the last (?) gene of the gal operon

5 July 2018

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Regulation of the mevalonate pathway

5 July 2018

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5 July 2018

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Additional findings in galactokinase deficiency

5 July 2018

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Knockout mice in understanding the mechanism of action of lithium

5 July 2018

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The impact of galactosaemia on quality of life--a pilot study

28 October 2018

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Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study

28 October 2018

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Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders

28 October 2018

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alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

28 October 2018

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The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency

28 October 2018

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Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

28 October 2018

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28 October 2018

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THE ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE BRAINS OF GALACTOSEMIA PATIENTS

28 October 2018

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Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

28 October 2018

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28 October 2018

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28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253915

Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253915

T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253915

The distribution of galactitol in tissues of rats fed galactose

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253915

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

28 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Uridyl Transferases and the Formation of Uridine Triphosphate : Uridyl Transferases and the Formation of Uridine Diphosphogalactose

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Purification and properties of uridine diphosphate galactose-4-epimerase from yeast

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Formation of Galactose-1-Phosphate from Uridine Diphosphate Galactose in Erythrocytes from Patients with Galactosemia[31]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

beta-Glucuronidase hydrolysis of urinary corticosteroid conjugates: the effect of salicylate glucuronoside as a competing substrate and the effect of enzyme inactivation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Biosynthesis and metabolic function of uridine diphosphoglucose in mammalian organisms and its relevance to certain inborn errors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Defective galactosylation of serum transferrin in galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Serum lysosomal enzyme abnormalities in galactosaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Altered follicle stimulating hormone isoforms in female galactosaemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Hypertonicity-induced phosphorylation and nuclear localization of the transcription factor TonEBP

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Cataract formation through the polyol pathway is associated with free radical production

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Deficiency of erythrocyte galactokinase in a patient with galactose diabetes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

GHMP Kinases - Structures, Mechanisms and Potential for Therapeutically Relevant Inhibition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Bone-marrow transplantation in a patient with sickle-cell anemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Small interfering RNA delivery to the liver by intravenous administration of galactosylated cationic liposomes in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Immunoglobulin abnormalities and effects of enzyme replacement therapy in children with Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Folding of Secretory and Membrane Proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

EFFECT OF ALLOPURINOL (4-HYDROXYPYRAZOLO-(3,4-D)PYRIMIDINE) ON SERUM AND URINARY URIC ACID IN PRIMARY AND SECONDARY GOUT

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Evidence of lack of toxicity of sodium phenylacetate and sodium benzoate in treating urea cycle enzymopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Creating isoprenoid diversity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

A mouse model of galactose-1-phosphate uridyl transferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Why mice have lost genes for COL21A1, STK17A, GPR145 and AHRI: evidence for gene deletion at evolutionary breakpoints in the rodent lineage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.028

Galactose metabolism in a patient with hereditary galactokinase deficiency

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22018723

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Galactose-1-phosphate in galactosemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22018723

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Disorders of fructose and galactose metabolism]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22018723

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2011.09.028

1 reference

30 July 2017

1 reference

30 July 2017

1 reference