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JIMD Reports
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February 23, 2013
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
Eugène F Diekman, Carolien C A Boelen, Berthil H C M T Prinsen, et al.
Human Molecular Genetics
|
August 14, 2003
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata
Pedro Brites, Alison M Motley, Pierre Gressens, et al.
Journal of Inherited Metabolic Disease
|
November 27, 2010
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
Annet M Bosch, Nico G G M Abeling, Lodewijk Ijlst, et al.
American Journal of Medical Genetics. Part A
|
April 21, 2004
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Bwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, et al.
American Journal of Human Genetics
|
December 13, 2006
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
Ference J Loupatty, Peter T Clayton, Jos P N Ruiter, et al.
Annals of Neurology
|
November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Sacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Journal of Inherited Metabolic Disease
|
October 28, 2010
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
Magalie Barth, Chris Ottolenghi, Laurence Hubert, et al.
Journal of Inherited Metabolic Disease
|
April 11, 2015
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria
Jacob Hagen, Heleen te Brinke, Ronald J A Wanders, et al.
Orphanet Journal of Rare Diseases
|
April 11, 2013
Genetic basis of hyperlysinemia
Sander M Houten, Heleen Te Brinke, Simone Denis, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
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of 8
Search research articles
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Showing results (61-70 of 72) with videos related to
Sort By:
Page
of 8
JIMD Reports
|
February 23, 2013
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
Eugène F Diekman, Carolien C A Boelen, Berthil H C M T Prinsen, et al.
Human Molecular Genetics
|
August 14, 2003
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata
Pedro Brites, Alison M Motley, Pierre Gressens, et al.
Journal of Inherited Metabolic Disease
|
November 27, 2010
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
Annet M Bosch, Nico G G M Abeling, Lodewijk Ijlst, et al.
American Journal of Medical Genetics. Part A
|
April 21, 2004
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Bwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, et al.
American Journal of Human Genetics
|
December 13, 2006
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
Ference J Loupatty, Peter T Clayton, Jos P N Ruiter, et al.
Annals of Neurology
|
November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Sacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Journal of Inherited Metabolic Disease
|
October 28, 2010
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
Magalie Barth, Chris Ottolenghi, Laurence Hubert, et al.
Journal of Inherited Metabolic Disease
|
April 11, 2015
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria
Jacob Hagen, Heleen te Brinke, Ronald J A Wanders, et al.
Orphanet Journal of Rare Diseases
|
April 11, 2013
Genetic basis of hyperlysinemia
Sander M Houten, Heleen Te Brinke, Simone Denis, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
Page
of 8