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JIMD Reports
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January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
Sarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Carbohydrate Research
|
July 7, 2009
Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry
Maïlys Guillard, Jolein Gloerich, Hans J C T Wessels, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2005
Defective protein glycosylation in patients with cutis laxa syndrome
Eva Morava, Suzan Wopereis, Paul Coucke, et al.
JIMD Reports
|
July 21, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature review
Laurien Vaes, George E Tiller, Belén Pérez, et al.
Endocrine Connections
|
July 16, 2019
N-Glycosylation influences human corticosteroid-binding globulin measurements
Lesley A Hill, Zeynep Sumer-Bayraktar, John G Lewis, et al.
Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry
|
January 19, 2019
Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates
Eveline Lefever, Peter Witters, Evelien Gielen, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing
Therese E Gadomski, Melody Bolton, Majid Alfadhel, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2026
Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency
Anu Jain, Rohit Budhraja, Kishore Garapati, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2004
Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients
Judit Kárteszi, Katalin Hollódy, Judit Bene, et al.
JIMD Reports
|
October 30, 2013
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome
Felix Distelmaier, Peter Huppke, Peter Pieperhoff, et al.
Page
of 36
Search research articles
Search
Showing results (131-140 of 355) with videos related to
Sort By:
Page
of 36
JIMD Reports
|
January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
Sarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Carbohydrate Research
|
July 7, 2009
Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry
Maïlys Guillard, Jolein Gloerich, Hans J C T Wessels, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2005
Defective protein glycosylation in patients with cutis laxa syndrome
Eva Morava, Suzan Wopereis, Paul Coucke, et al.
JIMD Reports
|
July 21, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature review
Laurien Vaes, George E Tiller, Belén Pérez, et al.
Endocrine Connections
|
July 16, 2019
N-Glycosylation influences human corticosteroid-binding globulin measurements
Lesley A Hill, Zeynep Sumer-Bayraktar, John G Lewis, et al.
Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry
|
January 19, 2019
Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates
Eveline Lefever, Peter Witters, Evelien Gielen, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing
Therese E Gadomski, Melody Bolton, Majid Alfadhel, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2026
Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency
Anu Jain, Rohit Budhraja, Kishore Garapati, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2004
Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients
Judit Kárteszi, Katalin Hollódy, Judit Bene, et al.
JIMD Reports
|
October 30, 2013
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome
Felix Distelmaier, Peter Huppke, Peter Pieperhoff, et al.
Page
of 36