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Brain & Development
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September 13, 2011
Pyruvate dehydrogenase deficiency and epilepsy
Chitra Prasad, Tony Rupar, Asuri N Prasad
Journal of Pediatric Hematology/Oncology
|
November 9, 2016
Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience
Zuhal K Yildirim, Ebba Nexo, Tony Rupar, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|
April 28, 2015
Transcobalamin II Deficiency in Four Cases with Novel Mutations
Şule Ünal, Tony Rupar, Sevgi Yetgin, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
February 24, 2025
New Diagnosis of Ornithine Transcarbamylase Deficiency in a 71-Year-Old Man
Saud Daghreeri, Karen J Bosma, Robert Hammond, et al.
Molecular Genetics and Metabolism
|
July 8, 2009
Transcobalamin II deficiency at birth
Rene Ratschmann, Milen Minkov, Ana Kis, et al.
Journal of Cellular Physiology
|
May 3, 2007
Sperm surface arylsulfatase A can disperse the cumulus matrix of cumulus oocyte complexes
Alexander Wu, Araya Anupriwan, Sitthichai Iamsaard, et al.
Journal of Lipid Research
|
October 4, 2011
Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells
Hongbin Xu, Kessiri Kongmanas, Suraj Kadunganattil, et al.
Molecular Genetics and Metabolism
|
February 16, 2008
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms
Gabriella A Horvath, Sylvia G Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, et al.
Paediatrics & Child Health
|
June 27, 2019
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
Eugenio Zapata-Aldana, Hugh J McMillan, Tony Rupar, et al.
American Journal of Medical Genetics. Part A
|
December 10, 2020
Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population
Michael A Levy, Jennifer Kerkhof, Frances R Belmonte, et al.
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of 2
Search research articles
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Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Brain & Development
|
September 13, 2011
Pyruvate dehydrogenase deficiency and epilepsy
Chitra Prasad, Tony Rupar, Asuri N Prasad
Journal of Pediatric Hematology/Oncology
|
November 9, 2016
Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience
Zuhal K Yildirim, Ebba Nexo, Tony Rupar, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|
April 28, 2015
Transcobalamin II Deficiency in Four Cases with Novel Mutations
Şule Ünal, Tony Rupar, Sevgi Yetgin, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
February 24, 2025
New Diagnosis of Ornithine Transcarbamylase Deficiency in a 71-Year-Old Man
Saud Daghreeri, Karen J Bosma, Robert Hammond, et al.
Molecular Genetics and Metabolism
|
July 8, 2009
Transcobalamin II deficiency at birth
Rene Ratschmann, Milen Minkov, Ana Kis, et al.
Journal of Cellular Physiology
|
May 3, 2007
Sperm surface arylsulfatase A can disperse the cumulus matrix of cumulus oocyte complexes
Alexander Wu, Araya Anupriwan, Sitthichai Iamsaard, et al.
Journal of Lipid Research
|
October 4, 2011
Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells
Hongbin Xu, Kessiri Kongmanas, Suraj Kadunganattil, et al.
Molecular Genetics and Metabolism
|
February 16, 2008
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms
Gabriella A Horvath, Sylvia G Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, et al.
Paediatrics & Child Health
|
June 27, 2019
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
Eugenio Zapata-Aldana, Hugh J McMillan, Tony Rupar, et al.
American Journal of Medical Genetics. Part A
|
December 10, 2020
Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population
Michael A Levy, Jennifer Kerkhof, Frances R Belmonte, et al.
Page
of 2