(Q34320339)

1 August 2017

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia (English)

1 reference

1 August 2017

0 references

1 reference

6

Gerard T Berry

1 reference

1 August 2017

Ying Liu

1

1 reference

1 August 2017

Baoyun Xia

2

1 reference

1 August 2017

Tyler J Gleason

3

1 reference

1 August 2017

Uriel Castañeda

4

1 reference

1 August 2017

Miao He

5

1 reference

1 August 2017

Judith L Fridovich-Keil

7

1 reference

1 August 2017

12 June 2012

1 reference

Molecular Genetics and Metabolism

1 August 2017

1 reference

1 August 2017

106

1 reference

1 August 2017

4

1 reference

1 August 2017

442-454

1 reference

Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

The adult galactosemic phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Ovarian function in girls and women with GALT-deficiency galactosemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

FSH isoform pattern in classic galactosemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Galactosemia, a single gene disorder with epigenetic consequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Anti-Mullerian hormone (AMH) as a predictive marker in assisted reproductive technology (ART).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Analysis of N- and O-linked glycans from glycoproteins using MALDI-TOF mass spectrometry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Biomarkers of ovarian function in girls and women with classic galactosemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Mass spectrometric approach for screening modifications of total serum N-glycome in human diseases: application to cirrhosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Fragmentation characteristics of permethylated oligosaccharides using a matrix-assisted laser desorption/ionization two-stage time-of-flight (TOF/TOF) tandem mass spectrometer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

A yeast expression system for human galactose-1-phosphate uridylyltransferase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Ganglioside patterns in galactosemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

The neuropathology of galactosemia. A histopathological and biochemical study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Outcomes of siblings with classical galactosemia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Structures and Immunochemical Properties of Oligosaccharides Isolated from Pig Submaxillary Mucins

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426456

Serum Levels of Anti-Müllerian Hormone as a Marker of Ovarian Function in 926 Healthy Females from Birth to Adulthood and in 172 Turner Syndrome 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=3426456

Serum lysosomal enzyme abnormalities in galactosaemia

28 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.025

Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.025

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.025

Carbohydrate-deficient transferrin in galactosaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.025

Defective galactosylation of serum transferrin in galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.025

Altered follicle stimulating hormone isoforms in female galactosaemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.025

10.1016/J.YMGME.2012.05.025

7 January 2021

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference