(Q34054239)

30 July 2017

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

1 October 2011

1 reference

Molecular Genetics and Metabolism

30 July 2017

1 reference

30 July 2017

105

1 reference

30 July 2017

1

1 reference

30 July 2017

44-55

1 reference

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

30 July 2017

1 reference

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

Identification of novel small molecule inhibitors of 4-diphosphocytidyl-2-C-methyl-D-erythritol (CDP-ME) kinase of Gram-negative bacteria

5 July 2018

1 reference

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

The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase

5 July 2018

1 reference

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

The adult galactosemic phenotype

5 July 2018

1 reference

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

Gene therapy for lysosomal storage diseases: progress, challenges and future prospects

5 July 2018

1 reference

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

Allogeneic hematopoietic stem cell transplantation for sickle cell disease: the time is now.

5 July 2018

1 reference

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

Systemic administration of PRO051 in Duchenne's muscular dystrophy

5 July 2018

1 reference

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

New developments in the treatment of hyperammonemia: emerging use of carglumic acid.

5 July 2018

1 reference

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

Identification of a NBD1-binding pharmacological chaperone that corrects the trafficking defect of F508del-CFTR.

5 July 2018

1 reference

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

Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

5 July 2018

1 reference

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

Enzyme replacement therapy of lysosomal storage diseases

5 July 2018

1 reference

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

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors

5 July 2018

1 reference

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

Career moves: induced pluripotent cells from human aortic smooth muscle cells can efficiently redifferentiate into parental phenotype

5 July 2018

1 reference

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

Roles of inositol phosphates and inositol pyrophosphates in development, cell signaling and nuclear processes

5 July 2018

1 reference

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

Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy

5 July 2018

1 reference

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

Galactose toxicity in animals

5 July 2018

1 reference

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

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

5 July 2018

1 reference

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

Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria

5 July 2018

1 reference

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

Stop codon read-through of a methylmalonic aciduria mutation

5 July 2018

1 reference

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

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

5 July 2018

1 reference

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

ARHI: A new target of galactose toxicity in Classic Galactosemia

5 July 2018

1 reference

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

The mevalonate pathway of Staphylococcus aureus

5 July 2018

1 reference

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

The unexplored potential of the pentose phosphate pathway in health and disease

5 July 2018

1 reference

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

PI3K pathway alterations in cancer: variations on a theme

5 July 2018

1 reference

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

The Mycobacterium tuberculosis MEP (2C-methyl-d-erythritol 4-phosphate) pathway as a new drug target

5 July 2018

1 reference

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

Virtual screening for novel COX-2 inhibitors using the ZINC database

5 July 2018

1 reference

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

Pluripotent stem cells induced from adult neural stem cells by reprogramming with two factors

5 July 2018

1 reference

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

Galactosemia and amenorrhea in the adolescent

5 July 2018

1 reference

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

High-throughput screening for human galactokinase inhibitors

5 July 2018

1 reference

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

Advances of AKT pathway in human oncogenesis and as a target for anti-cancer drug discovery

5 July 2018

1 reference

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

Reprogramming of human somatic cells to pluripotency with defined factors

5 July 2018

1 reference

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

Induced pluripotent cells mimicking human embryonic stem cells.

5 July 2018

1 reference

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

Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin

5 July 2018

1 reference

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

Activator protein-1 contributes to high NaCl-induced increase in tonicity-responsive enhancer/osmotic response element-binding protein transactivating activity

5 July 2018

1 reference

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

Induced pluripotent stem cell lines derived from human somatic cells

5 July 2018

1 reference

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

Homocysteine, vitamins, and vascular disease prevention

5 July 2018

1 reference

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

Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model

5 July 2018

1 reference

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

The non-mevalonate pathway of isoprenoid precursor biosynthesis.

5 July 2018

1 reference

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

Crystal structure of theStreptococcus pneumoniaemevalonate kinase in complex with diphosphomevalonate

5 July 2018

1 reference

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

Newborn screening fact sheets

5 July 2018

1 reference

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

Classical galactosaemia revisited.

5 July 2018

1 reference

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

How tonicity regulates genes: story of TonEBP transcriptional activator

5 July 2018

1 reference

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

An updated review of the long-term neurological effects of galactosemia.

5 July 2018

1 reference

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

Molecular structure of human galactokinase: implications for type II galactosemia

5 July 2018

1 reference

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

PI3K-Akt pathway: its functions and alterations in human cancer

5 July 2018

1 reference

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

Biosynthesis of isoprenoids via the non-mevalonate pathway

5 July 2018

1 reference

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

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome

5 July 2018

1 reference

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

Living with classical galactosemia: health-related quality of life consequences.

5 July 2018

1 reference

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

The enzymatic transformation of uridine diphosphate glucose into a galactose derivative

5 July 2018

1 reference

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

Sugar recognition by human galactokinase

5 July 2018

1 reference

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

An overview of the non-mevalonate pathway for terpenoid biosynthesis in plants

5 July 2018

1 reference

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

Uridyl transferases and the formation of uridine diphosphogalactose

5 July 2018

1 reference

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

Enzymic phosphorylation of galactosamine and galactose.

5 July 2018

1 reference

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

Enzymic isomerization and related processes

5 July 2018

1 reference

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

Biosynthesis of isoprenoids: Crystal structure of 4-diphosphocytidyl-2C-methyl-D-erythritol kinase

5 July 2018

1 reference

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

Molecular structure of galactokinase

5 July 2018

1 reference

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

Functional analysis of disease‐causing mutations in human galactokinase

5 July 2018

1 reference

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

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

5 July 2018

1 reference

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

Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea

5 July 2018

1 reference

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

Galactose-1-phosphate is a regulator of inositol monophosphatase: a fact or a fiction?

5 July 2018

1 reference

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

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

5 July 2018

1 reference

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

Gene therapy for adenosine deaminase (ADA) deficiency: review of the past, the present and the future

5 July 2018

1 reference

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

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

5 July 2018

1 reference

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

Phenylketonuria: tyrosine supplementation in phenylalanine-restricted diets

5 July 2018

1 reference

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

Biosynthesis of isoprenoids via mevalonate in Archaea: the lost pathway

5 July 2018

1 reference

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

The role of lateral gene transfer in the evolution of isoprenoid biosynthesis pathways.

5 July 2018

1 reference

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

The non-mevalonate isoprenoid biosynthesis of plants as a test system for new herbicides and drugs against pathogenic bacteria and the malaria parasite

5 July 2018

1 reference

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

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

5 July 2018

1 reference

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

Expression of human inositol monophosphatase suppresses galactose toxicity in Saccharomyces cerevisiae: possible implications in galactosemia

5 July 2018

1 reference

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

Tonicity-responsive enhancer binding protein, a rel-like protein that stimulates transcription in response to hypertonicity

5 July 2018

1 reference

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

Brain inositol monophosphatase identified as a galactose 1-phosphatase

5 July 2018

1 reference

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

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

5 July 2018

1 reference

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

Convergent evolution of similar enzymatic function on different protein folds: the hexokinase, ribokinase, and galactokinase families of sugar kinases

5 July 2018

1 reference

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

Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy

5 July 2018

1 reference

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

The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21

5 July 2018

1 reference

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

Hidden sources of galactose in the environment.

5 July 2018

1 reference

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

Galactose-1-phosphate in the pathophysiology of galactosemia

5 July 2018

1 reference

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

Therapy of urea cycle enzymopathies: three case studies

5 July 2018

1 reference

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

Kinetics of purified liver phosphorylase

5 July 2018

1 reference

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

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

5 July 2018

1 reference

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

Regulation of the mevalonate pathway

5 July 2018

1 reference

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

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

5 July 2018

1 reference

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

Additional findings in galactokinase deficiency

5 July 2018

1 reference

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

Knockout mice in understanding the mechanism of action of lithium

5 July 2018

1 reference

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

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

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

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

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

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

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

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

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

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

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

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

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

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 ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE BRAINS OF GALACTOSEMIA PATIENTS

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

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

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 role of aldose reductase in sugar cataract formation: aldose reductase plays a key role in lens epithelial cell death (apoptosis).

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

Signaling molecules derived from the cholesterol biosynthetic pathway: mechanisms of action and possible roles in human disease

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

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