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The Journal of Pediatrics
|
January 21, 2006
Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA
Steven M Schade van Westrum, Paul J Nederkoorn, P Richard Schuurman, et al.
AJNR. American Journal of Neuroradiology
|
May 15, 2002
Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report
Charles B Majoie, Erik M Akkerman, Christian Blank, et al.
Journal of Child Neurology
|
March 24, 2011
Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients
Eveline E O Hagebeuk, Johannes H T M Koelman, Marinus Duran, et al.
Clinical Neurology and Neurosurgery
|
September 11, 2013
Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit"
Marc Engelen, Rob Ofman, Marcel Dijkgraaf, et al.
Journal of Inherited Metabolic Disease
|
December 18, 2020
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata
Wedad Fallatah, Monica Schouten, Christine Yergeau, et al.
Molecular Genetics and Metabolism
|
May 3, 2006
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
Nico G Abeling, Marinus Duran, Henk D Bakker, et al.
Neuromuscular Disorders : NMD
|
September 11, 2007
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)
Peter G Barth, Monique M Ryan, Richard I Webster, et al.
Orphanet Journal of Rare Diseases
|
August 15, 2012
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen, Stephan Kemp, Marianne de Visser, et al.
Journal of Child Neurology
|
August 27, 2011
Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study
Eveline E O Hagebeuk, Marinus Duran, Johannes H T M Koelman, et al.
European Journal of Human Genetics : EJHG
|
March 4, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5
Yasmin Namavar, David Chitayat, Peter G Barth, et al.
Page
of 10
Search research articles
Search
Showing results (31-40 of 96) with videos related to
Sort By:
Page
of 10
The Journal of Pediatrics
|
January 21, 2006
Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA
Steven M Schade van Westrum, Paul J Nederkoorn, P Richard Schuurman, et al.
AJNR. American Journal of Neuroradiology
|
May 15, 2002
Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report
Charles B Majoie, Erik M Akkerman, Christian Blank, et al.
Journal of Child Neurology
|
March 24, 2011
Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients
Eveline E O Hagebeuk, Johannes H T M Koelman, Marinus Duran, et al.
Clinical Neurology and Neurosurgery
|
September 11, 2013
Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit"
Marc Engelen, Rob Ofman, Marcel Dijkgraaf, et al.
Journal of Inherited Metabolic Disease
|
December 18, 2020
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata
Wedad Fallatah, Monica Schouten, Christine Yergeau, et al.
Molecular Genetics and Metabolism
|
May 3, 2006
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
Nico G Abeling, Marinus Duran, Henk D Bakker, et al.
Neuromuscular Disorders : NMD
|
September 11, 2007
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)
Peter G Barth, Monique M Ryan, Richard I Webster, et al.
Orphanet Journal of Rare Diseases
|
August 15, 2012
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen, Stephan Kemp, Marianne de Visser, et al.
Journal of Child Neurology
|
August 27, 2011
Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study
Eveline E O Hagebeuk, Marinus Duran, Johannes H T M Koelman, et al.
European Journal of Human Genetics : EJHG
|
March 4, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5
Yasmin Namavar, David Chitayat, Peter G Barth, et al.
Page
of 10