Search research articles
Contact Us
Filters
Showing results (21-30 of 40) with videos related to
Page
of 4
Sort By:
Advances in Experimental Medicine and Biology
|
January 10, 2004
Biochemical markers predicting survival in peroxisome biogenesis disorders
Jeannette Gootjes, Petra A W Mooijer, Conny Dekker, et al.
Acta Neuropathologica
|
July 21, 2007
Pontocerebellar hypoplasia type 2: a neuropathological update
Peter G Barth, Eleonora Aronica, Linda de Vries, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
High incidence of hyperoxaluria in generalized peroxisomal disorders
Christiaan S van Woerden, Jaap W Groothoff, Frits A Wijburg, et al.
AJNR. American Journal of Neuroradiology
|
June 19, 2004
Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings
Birgitta S M ter Rahe, Charles B L M Majoie, Erik M Akkerman, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases
Bwee Tien Poll-The, Ronald J A Wanders, Jos P N Ruiter, et al.
The Journal of Pediatrics
|
November 1, 2002
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
Fredoen Valianpour, Ronald J A Wanders, Henk Overmars, et al.
American Journal of Mental Retardation : AJMR
|
June 9, 2005
Etiology of mental retardation in children referred to a tertiary care center: a prospective study
Clara D M van Karnebeek, Frederike Y Scheper, Nico G Abeling, et al.
Journal of Lipid Research
|
April 5, 2005
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2005
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome
Hester Y Kroes, Rutger-Jan A J Nievelstein, Peter G Barth, et al.
Journal of Inherited Metabolic Disease
|
August 20, 2015
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
Kevin Berendse, Marc Engelen, Sacha Ferdinandusse, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 40) with videos related to
Sort By:
Page
of 4
Advances in Experimental Medicine and Biology
|
January 10, 2004
Biochemical markers predicting survival in peroxisome biogenesis disorders
Jeannette Gootjes, Petra A W Mooijer, Conny Dekker, et al.
Acta Neuropathologica
|
July 21, 2007
Pontocerebellar hypoplasia type 2: a neuropathological update
Peter G Barth, Eleonora Aronica, Linda de Vries, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
High incidence of hyperoxaluria in generalized peroxisomal disorders
Christiaan S van Woerden, Jaap W Groothoff, Frits A Wijburg, et al.
AJNR. American Journal of Neuroradiology
|
June 19, 2004
Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings
Birgitta S M ter Rahe, Charles B L M Majoie, Erik M Akkerman, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases
Bwee Tien Poll-The, Ronald J A Wanders, Jos P N Ruiter, et al.
The Journal of Pediatrics
|
November 1, 2002
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
Fredoen Valianpour, Ronald J A Wanders, Henk Overmars, et al.
American Journal of Mental Retardation : AJMR
|
June 9, 2005
Etiology of mental retardation in children referred to a tertiary care center: a prospective study
Clara D M van Karnebeek, Frederike Y Scheper, Nico G Abeling, et al.
Journal of Lipid Research
|
April 5, 2005
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2005
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome
Hester Y Kroes, Rutger-Jan A J Nievelstein, Peter G Barth, et al.
Journal of Inherited Metabolic Disease
|
August 20, 2015
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
Kevin Berendse, Marc Engelen, Sacha Ferdinandusse, et al.
Page
of 4