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International Journal of Molecular Sciences
|
April 28, 2018
CDG Therapies: From Bench to Bedside
Sandra Brasil, Carlota Pascoal, Rita Francisco, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDG
Ester Perales-Clemente, Kristen Liedtke, April Studinski, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2007
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
Eva Morava, Renate Zeevaert, Eckhard Korsch, et al.
Molecular Genetics and Metabolism
|
June 24, 2008
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
Gerben Truin, Mailys Guillard, Dirk J Lefeber, et al.
Journal of Inherited Metabolic Disease
|
September 5, 2007
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
Sandra G Heil, Marije Hogeveen, Leo A J Kluijtmans, et al.
Clinical Chemistry
|
February 17, 2019
Increased Clinical Sensitivity and Specificity of Plasma Protein <i>N</i>-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry
Jie Chen, Xueli Li, Andrew Edmondson, et al.
Mitochondrion
|
November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?
Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Glycobiology
|
October 3, 2024
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts
Kishore Garapati, Wasantha Ranatunga, Neha Joshi, et al.
Biochimica Et Biophysica Acta
|
June 16, 2005
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
Suzan Wopereis, Eva Morava, Stephanie Grünewald, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Page
of 36
Search research articles
Search
Showing results (181-190 of 355) with videos related to
Sort By:
Page
of 36
International Journal of Molecular Sciences
|
April 28, 2018
CDG Therapies: From Bench to Bedside
Sandra Brasil, Carlota Pascoal, Rita Francisco, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDG
Ester Perales-Clemente, Kristen Liedtke, April Studinski, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2007
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
Eva Morava, Renate Zeevaert, Eckhard Korsch, et al.
Molecular Genetics and Metabolism
|
June 24, 2008
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
Gerben Truin, Mailys Guillard, Dirk J Lefeber, et al.
Journal of Inherited Metabolic Disease
|
September 5, 2007
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
Sandra G Heil, Marije Hogeveen, Leo A J Kluijtmans, et al.
Clinical Chemistry
|
February 17, 2019
Increased Clinical Sensitivity and Specificity of Plasma Protein <i>N</i>-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry
Jie Chen, Xueli Li, Andrew Edmondson, et al.
Mitochondrion
|
November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?
Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Glycobiology
|
October 3, 2024
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts
Kishore Garapati, Wasantha Ranatunga, Neha Joshi, et al.
Biochimica Et Biophysica Acta
|
June 16, 2005
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
Suzan Wopereis, Eva Morava, Stephanie Grünewald, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Page
of 36