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JIMD Reports
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September 30, 2016
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Tessa van Dijk, Fred van Ruissen, Bregje Jaeger, et al.
Plos One
|
August 23, 2012
Bezafibrate for X-linked adrenoleukodystrophy
Marc Engelen, Luc Tran, Rob Ofman, et al.
Biochimica Et Biophysica Acta
|
July 22, 2009
The enigmatic role of tafazzin in cardiolipin metabolism
Riekelt H Houtkooper, Marjolein Turkenburg, Bwee Tien Poll-The, et al.
Journal of Neurology
|
November 14, 2019
Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
Wouter J C van Ballegoij, Sander C Kuijpers, Irene C Huffnagel, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 28, 2017
Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution
Femke C C Klouwer, Nancy E Braverman, Henkjan J Verkade, et al.
Journal of Inherited Metabolic Disease
|
June 1, 2019
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder
Kevin Berendse, Bart G P Koot, Femke C C Klouwer, et al.
Journal of Neurology
|
May 22, 2020
Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
Wouter J C van Ballegoij, Sander C Kuijpers, Irene C Huffnagel, et al.
Plos One
|
May 22, 2013
Neurologic abnormalities in HIV-1 infected children in the era of combination antiretroviral therapy
Lotus A van Arnhem, Madeleine J Bunders, Henriette J Scherpbier, et al.
International Journal of Pediatric Otorhinolaryngology
|
July 2, 2010
Is hearing loss a feature of Joubert syndrome, a ciliopathy?
Hester Y Kroes, Bert G A Van Zanten, Sander A De Ru, et al.
European Journal of Human Genetics : EJHG
|
March 18, 2004
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation
Damayanti R Sjarif, Christina Hellerud, Johannes K Ploos van Amstel, et al.
Page
of 10
Search research articles
Search
Showing results (51-60 of 96) with videos related to
Sort By:
Page
of 10
JIMD Reports
|
September 30, 2016
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Tessa van Dijk, Fred van Ruissen, Bregje Jaeger, et al.
Plos One
|
August 23, 2012
Bezafibrate for X-linked adrenoleukodystrophy
Marc Engelen, Luc Tran, Rob Ofman, et al.
Biochimica Et Biophysica Acta
|
July 22, 2009
The enigmatic role of tafazzin in cardiolipin metabolism
Riekelt H Houtkooper, Marjolein Turkenburg, Bwee Tien Poll-The, et al.
Journal of Neurology
|
November 14, 2019
Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
Wouter J C van Ballegoij, Sander C Kuijpers, Irene C Huffnagel, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 28, 2017
Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution
Femke C C Klouwer, Nancy E Braverman, Henkjan J Verkade, et al.
Journal of Inherited Metabolic Disease
|
June 1, 2019
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder
Kevin Berendse, Bart G P Koot, Femke C C Klouwer, et al.
Journal of Neurology
|
May 22, 2020
Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
Wouter J C van Ballegoij, Sander C Kuijpers, Irene C Huffnagel, et al.
Plos One
|
May 22, 2013
Neurologic abnormalities in HIV-1 infected children in the era of combination antiretroviral therapy
Lotus A van Arnhem, Madeleine J Bunders, Henriette J Scherpbier, et al.
International Journal of Pediatric Otorhinolaryngology
|
July 2, 2010
Is hearing loss a feature of Joubert syndrome, a ciliopathy?
Hester Y Kroes, Bert G A Van Zanten, Sander A De Ru, et al.
European Journal of Human Genetics : EJHG
|
March 18, 2004
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation
Damayanti R Sjarif, Christina Hellerud, Johannes K Ploos van Amstel, et al.
Page
of 10