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Journal of Inherited Metabolic Disease
|
May 15, 2021
Inborn disorders of the malate aspartate shuttle
Melissa H Broeks, Clara D M van Karnebeek, Ronald J A Wanders, et al.
Molecular Genetics and Metabolism
|
July 6, 2004
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
Lígia S Almeida, Nanda M Verhoeven, Birthe Roos, et al.
JIMD Reports
|
February 23, 2013
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction
Ellen H Jeninga, Monique de Vroede, Nicole Hamers, et al.
Biochimica Et Biophysica Acta
|
March 1, 2006
Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency
Erwin E W Jansen, Nanda M Verhoeven, Cornelis Jakobs, et al.
Neuroscience Letters
|
July 26, 2005
The transmethylation cycle in the brain of Alzheimer patients
Cees Mulder, Niki S M Schoonenboom, Erwin E W Jansen, et al.
American Journal of Human Genetics
|
December 21, 2004
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria
Eduard A Struys, Gajja S Salomons, Younes Achouri, et al.
Biochimica Et Biophysica Acta. General Subjects
|
April 1, 2019
Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism
Rúben J Ramos, Monique Albersen, Esmee Vringer, et al.
Annals of Neurology
|
July 23, 2005
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
Eduard A Struys, Stanley H Korman, Gajja S Salomons, et al.
Neurobiology of Aging
|
May 5, 2016
CSF d-serine concentrations are similar in Alzheimer's disease, other dementias, and elderly controls
Elisanne A L M Biemans, Nanda M Verhoeven-Duif, Johan Gerrits, et al.
Journal of Veterinary Internal Medicine
|
December 24, 2018
Focal epilepsy with fear-related behavior as primary presentation in Boerboel dogs
Quirine E M Stassen, Guy C M Grinwis, Nieke C van Rhijn, et al.
Page
of 11
Search research articles
Search
Showing results (21-30 of 107) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
May 15, 2021
Inborn disorders of the malate aspartate shuttle
Melissa H Broeks, Clara D M van Karnebeek, Ronald J A Wanders, et al.
Molecular Genetics and Metabolism
|
July 6, 2004
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
Lígia S Almeida, Nanda M Verhoeven, Birthe Roos, et al.
JIMD Reports
|
February 23, 2013
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction
Ellen H Jeninga, Monique de Vroede, Nicole Hamers, et al.
Biochimica Et Biophysica Acta
|
March 1, 2006
Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency
Erwin E W Jansen, Nanda M Verhoeven, Cornelis Jakobs, et al.
Neuroscience Letters
|
July 26, 2005
The transmethylation cycle in the brain of Alzheimer patients
Cees Mulder, Niki S M Schoonenboom, Erwin E W Jansen, et al.
American Journal of Human Genetics
|
December 21, 2004
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria
Eduard A Struys, Gajja S Salomons, Younes Achouri, et al.
Biochimica Et Biophysica Acta. General Subjects
|
April 1, 2019
Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism
Rúben J Ramos, Monique Albersen, Esmee Vringer, et al.
Annals of Neurology
|
July 23, 2005
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
Eduard A Struys, Stanley H Korman, Gajja S Salomons, et al.
Neurobiology of Aging
|
May 5, 2016
CSF d-serine concentrations are similar in Alzheimer's disease, other dementias, and elderly controls
Elisanne A L M Biemans, Nanda M Verhoeven-Duif, Johan Gerrits, et al.
Journal of Veterinary Internal Medicine
|
December 24, 2018
Focal epilepsy with fear-related behavior as primary presentation in Boerboel dogs
Quirine E M Stassen, Guy C M Grinwis, Nieke C van Rhijn, et al.
Page
of 11