(Q34547104)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

review article

1 reference

title

Classical galactosaemia revisited (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Annet M Bosch

1 reference

2 August 2017

publication date

11 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

26 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

page(s)

516-525

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

Aldose reductase inhibition prevents galactose-induced ovarian dysfunction in the Sprague-Dawley rat.

26 December 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0382-0

Galactosemia: evaluation with MR imaging

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0382-0

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0382-0

Bone metabolism in galactosemia.

21 January 2018

1 reference

12 December 2020

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Galactose inhibition of neonatal neutrophil function

1 reference

12 December 2020

Galactose and cataract

1 reference

12 December 2020

Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene

1 reference

12 December 2020

Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia

1 reference

12 December 2020

Curious neurologic sequelae in galactosemia.

1 reference

12 December 2020

Galactose conversion to D-xylulose: an alternate route of galactose metabolism

1 reference

12 December 2020

A common mutation associated with the Duarte galactosemia allele

1 reference

12 December 2020

Bone mineral density in patients with classic galactosaemia

1 reference

12 December 2020

Risk factors for premature ovarian failure in females with galactosemia

1 reference

12 December 2020

Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia

1 reference

12 December 2020

Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report

1 reference

12 December 2020

A prevalent mutation for galactosemia among black Americans

1 reference

12 December 2020

High tolerance for oral galactose in classical galactosaemia: dietary implications.

1 reference

12 December 2020

Effects of galactosemia in utero

1 reference

12 December 2020

Glycolysis and related reactions during cheese manufacture and ripening

1 reference

12 December 2020

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis for Duarte and Los Angeles variant galactosemia

1 reference

12 December 2020

Structure and function of enzymes of the Leloir pathway for galactose metabolism

1 reference

12 December 2020

Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

1 reference

12 December 2020

Galactose metabolism in human ovarian tissue

1 reference

12 December 2020

Verbal dyspraxia in children with galactosemia

1 reference

12 December 2020

The neuropathology of galactosemia. A histopathological and biochemical study

1 reference

12 December 2020

Identification of novel mutations in classical galactosemia

1 reference

12 December 2020

Altered follicle stimulating hormone isoforms in female galactosaemia patients

1 reference

12 December 2020

Urinary Galactonate in Patients with Galactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy

1 reference

12 December 2020

Pitfalls in the radioactive method of galactose-1-phosphate uridyltransferase activity measurement

1 reference

12 December 2020

Fruits and vegetables are a source of galactose: implications in planning the diets of patients with galactosaemia

1 reference

12 December 2020

The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia

1 reference

12 December 2020

Congenital galactosemia, a single enzymatic block in galactose metabolism

1 reference

12 December 2020

The human galactose-1-phosphate uridyltransferase gene

1 reference

12 December 2020

Evidence for accessory pathway of galactose metabolism in mammalian liver

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia

1 reference

12 December 2020

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

1 reference

12 December 2020

A mouse model of galactose-induced cataracts

1 reference

12 December 2020

Komrower Lecture. Galactosaemia today: the enigma and the challenge

1 reference

12 December 2020

Galactitol in galactosemia

1 reference

12 December 2020

Another aspect of the galactosemia enigma

1 reference

12 December 2020

Pseudotumor cerebri in galactosemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal exposure to high galactose adversely affects initial gonadal pool of germ cells in rats

1 reference

12 December 2020

Clinical features of galactokinase deficiency:A review of the literature

1 reference

12 December 2020

Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency

1 reference

12 December 2020

Long-term Follow-up of Galactosaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

A woman with untreated galactosaemia

1 reference

12 December 2020

Verbal dyspraxia and galactosemia

1 reference

12 December 2020

Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase.

1 reference

12 December 2020

Molecular basis of disorders of human galactose metabolism: past, present, and future.

1 reference

12 December 2020

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase

1 reference

12 December 2020

Outcomes analysis of verbal dyspraxia in classic galactosemia.

1 reference

12 December 2020

Serum lysosomal enzyme abnormalities in galactosaemia

1 reference

12 December 2020

Ovarian failure in galactosemia

1 reference

12 December 2020

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

1 reference

12 December 2020

Long-term outcome in 134 patients with galactosaemia

1 reference

12 December 2020

The relationship of genotype to cognitive outcome in galactosaemia

1 reference

12 December 2020

Hidden sources of galactose in the environment

1 reference

12 December 2020

Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins

1 reference

12 December 2020

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

1 reference

12 December 2020

Cognitive functioning, neurologic status and brain imaging in classical galactosemia

1 reference

12 December 2020

Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients

1 reference

12 December 2020

Hypergonadotropic hypogonadism in female patients with galactosemia

1 reference

12 December 2020

Lens Changes in a Galactosemic Fetus

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations.

1 reference

9 November 2024

https://opencitations.net/index/api/v1/references/10.1007/S10545-006-0382-0

Identifiers

DOI

10.1007/S10545-006-0382-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

26 December 2019

1025567673

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838075%20AND%20SRC:MED&resulttype=core&format=json