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Scientific Reports
|
April 12, 2018
GC-MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption
Cindy Irwin, Lodewyk J Mienie, Ron A Wevers, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 29, 2002
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy
Padraic J Grattan-Smith, Ron A Wevers, Gerry C Steenbergen-Spanjers, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
March 29, 2019
The GC-MS metabolomics signature in patients with fibromyalgia syndrome directs to dysbiosis as an aspect contributing factor of FMS pathophysiology
Bontle G Malatji, Shayne Mason, Lodewyk J Mienie, et al.
Clinical Chemistry
|
January 29, 2011
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II
Maïlys Guillard, Eva Morava, Floris L van Delft, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2005
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype
Lucie Guyant-Maréchal, Aad Verrips, Carole Girard, et al.
Neurology
|
August 2, 2022
Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
Bianca M L Stelten, Geert J Lycklama À Nijeholt, Evelien Hendriks, et al.
Acta Dermato-Venereologica
|
July 1, 2015
Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial
Joris Fuijkschot, Marieke M B Seyger, Diane E T Bastiaans, et al.
JIMD Reports
|
September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.
Mitochondrion
|
August 12, 2009
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
Ellyze Van Asbeck, David F G J Wolthuis, Miski Mohamed, et al.
Page
of 27
Search research articles
Search
Showing results (51-60 of 266) with videos related to
Sort By:
Page
of 27
Scientific Reports
|
April 12, 2018
GC-MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption
Cindy Irwin, Lodewyk J Mienie, Ron A Wevers, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 29, 2002
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy
Padraic J Grattan-Smith, Ron A Wevers, Gerry C Steenbergen-Spanjers, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
March 29, 2019
The GC-MS metabolomics signature in patients with fibromyalgia syndrome directs to dysbiosis as an aspect contributing factor of FMS pathophysiology
Bontle G Malatji, Shayne Mason, Lodewyk J Mienie, et al.
Clinical Chemistry
|
January 29, 2011
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II
Maïlys Guillard, Eva Morava, Floris L van Delft, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2005
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype
Lucie Guyant-Maréchal, Aad Verrips, Carole Girard, et al.
Neurology
|
August 2, 2022
Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
Bianca M L Stelten, Geert J Lycklama À Nijeholt, Evelien Hendriks, et al.
Acta Dermato-Venereologica
|
July 1, 2015
Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial
Joris Fuijkschot, Marieke M B Seyger, Diane E T Bastiaans, et al.
JIMD Reports
|
September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.
Mitochondrion
|
August 12, 2009
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
Ellyze Van Asbeck, David F G J Wolthuis, Miski Mohamed, et al.
Page
of 27