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Handbook of Clinical Neurology
|
April 30, 2013
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
Matthias R Baumgartner
Journal of Inherited Metabolic Disease
|
April 19, 2023
Organic acidurias: Ingredients for precision medicine
Stefan Kölker, Matthias R Baumgartner
Journal of Inherited Metabolic Disease
|
February 15, 2019
The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways
Martina Huemer, Matthias R Baumgartner
Seminars in Neonatology : SN
|
June 19, 2002
Peroxisomal disorders
Matthias R Baumgartner, Jean Marie Saudubray
Journal of Inherited Metabolic Disease
|
November 13, 2014
Complex lipids
Jean-Marie Saudubray, Matthias R Baumgartner, Ronald Wanders
Journal of Inherited Metabolic Disease
|
January 30, 2019
Vitamin B<sub>12</sub> , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation
D Sean Froese, Brian Fowler, Matthias R Baumgartner
Orphanet Journal of Rare Diseases
|
July 1, 2021
A systematic review of moral reasons on orphan drug reimbursement
Bettina M Zimmermann, Johanna Eichinger, Matthias R Baumgartner
Orphanet Journal of Rare Diseases
|
October 26, 2014
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review
Nina A Zeltner, Martina Huemer, Matthias R Baumgartner, et al.
The Journal of Biological Chemistry
|
August 27, 2009
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency
Martin Stucki, Terttu Suormala, Brian Fowler, et al.
Journal of Pediatric Psychology
|
September 24, 2024
Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases
Susanne Wehrli, Matthias R Baumgartner, Andrew A Dwyer, et al.
Page
of 14
Search research articles
Search
Showing results (1-10 of 138) with videos related to
Sort By:
Page
of 14
Handbook of Clinical Neurology
|
April 30, 2013
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
Matthias R Baumgartner
Journal of Inherited Metabolic Disease
|
April 19, 2023
Organic acidurias: Ingredients for precision medicine
Stefan Kölker, Matthias R Baumgartner
Journal of Inherited Metabolic Disease
|
February 15, 2019
The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways
Martina Huemer, Matthias R Baumgartner
Seminars in Neonatology : SN
|
June 19, 2002
Peroxisomal disorders
Matthias R Baumgartner, Jean Marie Saudubray
Journal of Inherited Metabolic Disease
|
November 13, 2014
Complex lipids
Jean-Marie Saudubray, Matthias R Baumgartner, Ronald Wanders
Journal of Inherited Metabolic Disease
|
January 30, 2019
Vitamin B<sub>12</sub> , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation
D Sean Froese, Brian Fowler, Matthias R Baumgartner
Orphanet Journal of Rare Diseases
|
July 1, 2021
A systematic review of moral reasons on orphan drug reimbursement
Bettina M Zimmermann, Johanna Eichinger, Matthias R Baumgartner
Orphanet Journal of Rare Diseases
|
October 26, 2014
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review
Nina A Zeltner, Martina Huemer, Matthias R Baumgartner, et al.
The Journal of Biological Chemistry
|
August 27, 2009
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency
Martin Stucki, Terttu Suormala, Brian Fowler, et al.
Journal of Pediatric Psychology
|
September 24, 2024
Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases
Susanne Wehrli, Matthias R Baumgartner, Andrew A Dwyer, et al.
Page
of 14