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Journal of Paediatrics and Child Health
|
June 1, 1993
Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency
J Christodoulou, J T Clarke, C A Rupar, et al.
Molecular Genetics and Metabolism Reports
|
August 6, 2016
Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia
E Kelland, C A Rupar, Asuri N Prasad, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
December 20, 2012
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults
A Cartagena, A N Prasad, C A Rupar, et al.
Acta Neuropathologica
|
January 1, 1994
Nerve biopsy findings in Niemann-Pick type II (NPC)
A F Hahn, J J Gilbert, C Kwarciak, et al.
JIMD Reports
|
October 14, 2014
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario
A Ferrand, V M Siu, C A Rupar, et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|
June 17, 1998
Aspartylglucosaminuria in a Canadian family
B A Gordon, C A Rupar, J W Rip, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
February 19, 2014
MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation
M Prasad, B Narayan, A N Prasad, et al.
Molecular Genetics and Metabolism
|
January 13, 2026
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence
Stephanie Newman, Srinitya Gannavarapu, Andrea C Yu, et al.
American Journal of Medical Genetics
|
June 28, 1996
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)
D E Cole, S Fukuda, B A Gordon, et al.
Neuropediatrics
|
December 1, 1996
Isolated sulfite oxidase deficiency
C A Rupar, J Gillett, B A Gordon, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 34) with videos related to
Sort By:
Page
of 4
Journal of Paediatrics and Child Health
|
June 1, 1993
Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency
J Christodoulou, J T Clarke, C A Rupar, et al.
Molecular Genetics and Metabolism Reports
|
August 6, 2016
Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia
E Kelland, C A Rupar, Asuri N Prasad, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
December 20, 2012
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults
A Cartagena, A N Prasad, C A Rupar, et al.
Acta Neuropathologica
|
January 1, 1994
Nerve biopsy findings in Niemann-Pick type II (NPC)
A F Hahn, J J Gilbert, C Kwarciak, et al.
JIMD Reports
|
October 14, 2014
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario
A Ferrand, V M Siu, C A Rupar, et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|
June 17, 1998
Aspartylglucosaminuria in a Canadian family
B A Gordon, C A Rupar, J W Rip, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
February 19, 2014
MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation
M Prasad, B Narayan, A N Prasad, et al.
Molecular Genetics and Metabolism
|
January 13, 2026
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence
Stephanie Newman, Srinitya Gannavarapu, Andrea C Yu, et al.
American Journal of Medical Genetics
|
June 28, 1996
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)
D E Cole, S Fukuda, B A Gordon, et al.
Neuropediatrics
|
December 1, 1996
Isolated sulfite oxidase deficiency
C A Rupar, J Gillett, B A Gordon, et al.
Page
of 4