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JIMD Reports
|
September 10, 2017
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2014
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study
Björn M van Geel, Bwee Tien Poll-The, Aad Verrips, et al.
Ultrasound in Medicine & Biology
|
September 13, 2006
Skeletal muscle ultrasonography: Visual versus quantitative evaluation
Sigrid Pillen, Mieke van Keimpema, Rutger A J Nievelstein, et al.
Journal of Neurology
|
September 30, 2020
Five men with arresting and relapsing cerebral adrenoleukodystrophy
Aaron M Carlson, Irene C Huffnagel, Aad Verrips, et al.
BMJ Neurology Open
|
August 23, 2023
Dilated fixed pupils and respiratory failure: a rare clinical course of Lambert-Eaton myasthenic syndrome
Michelle Fm Ten Brinck, Inge Wh Verheijen, Jaron van de Wardt, et al.
Pediatric Neurology
|
April 17, 2004
Novel mutations in three patients with LGMD2C with phenotypic differences
Sascha Vermeer, Aad Verrips, Michèl A A P Willemsen, 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.
Journal of Lipid Research
|
March 19, 2017
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
Frédéric M Vaz, Albert H Bootsma, Willem Kulik, et al.
Pediatric Neurology
|
January 30, 2002
Nonmuscular involvement in merosin-negative congenital muscular dystrophy
H Jacobus Gilhuis, Hans J ten Donkelaar, Ronald B Tanke, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 62) with videos related to
Sort By:
Page
of 7
JIMD Reports
|
September 10, 2017
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2014
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study
Björn M van Geel, Bwee Tien Poll-The, Aad Verrips, et al.
Ultrasound in Medicine & Biology
|
September 13, 2006
Skeletal muscle ultrasonography: Visual versus quantitative evaluation
Sigrid Pillen, Mieke van Keimpema, Rutger A J Nievelstein, et al.
Journal of Neurology
|
September 30, 2020
Five men with arresting and relapsing cerebral adrenoleukodystrophy
Aaron M Carlson, Irene C Huffnagel, Aad Verrips, et al.
BMJ Neurology Open
|
August 23, 2023
Dilated fixed pupils and respiratory failure: a rare clinical course of Lambert-Eaton myasthenic syndrome
Michelle Fm Ten Brinck, Inge Wh Verheijen, Jaron van de Wardt, et al.
Pediatric Neurology
|
April 17, 2004
Novel mutations in three patients with LGMD2C with phenotypic differences
Sascha Vermeer, Aad Verrips, Michèl A A P Willemsen, 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.
Journal of Lipid Research
|
March 19, 2017
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
Frédéric M Vaz, Albert H Bootsma, Willem Kulik, et al.
Pediatric Neurology
|
January 30, 2002
Nonmuscular involvement in merosin-negative congenital muscular dystrophy
H Jacobus Gilhuis, Hans J ten Donkelaar, Ronald B Tanke, et al.
Page
of 7