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Molecular Genetics and Metabolism
|
November 14, 2012
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria
Chitra Prasad, Marina I Salvadori, C A Rupar
Brain Pathology (Zurich, Switzerland)
|
May 5, 2010
9 year old girl with progressive weakness
Natashia Seemann, Craig Campbell, Robert Hammond, et al.
Brain & Development
|
July 23, 2011
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy
Asuri N Prasad, Charles A Rupar, Chitra Prasad
Pediatric Emergency Care
|
September 20, 2011
Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood
Aizeddin A Mhanni, Chitra Prasad, Cheryl Rockman-Greenberg
Paediatrics & Child Health
|
January 4, 2021
Bulging anterior fontanelle and dense bones in an infant
Camilla Raya Halgren, Jenna Lakhani, Samantha Colaiacovo, et al.
Indian Journal of Pediatrics
|
June 16, 2025
Long Term Follow up of Short-Chain-L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency Causing Hypoglycemia and Developmental Delays in Two Syrian Brothers
Annie Li, Robert Stein, C Anthony Rupar, et al.
The Journal of Pediatrics
|
April 8, 2004
The importance of gut motility in the metabolic control of propionic acidemia
Chitra Prasad, Samuel Nurko, Jacob Borovoy, et al.
Paediatrics & Child Health
|
February 27, 2018
Eight-year-old girl with hepatomegaly
Becky Biqi Chen, Chitra Prasad, Joanna C Walsh, et al.
Journal of Child Neurology
|
March 29, 2006
Congenital indifference to pain and deletion of chromosome 10q-: new association
Charuta Joshi, Angelika J Dawson, Shannon R Sanders, et al.
Clinical Dysmorphology
|
August 20, 2016
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer
Charushree Prasad, Melanie P Napier, Charles A Rupar, et al.
Page
of 12
Search research articles
Search
Showing results (11-20 of 114) with videos related to
Sort By:
Page
of 12
Molecular Genetics and Metabolism
|
November 14, 2012
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria
Chitra Prasad, Marina I Salvadori, C A Rupar
Brain Pathology (Zurich, Switzerland)
|
May 5, 2010
9 year old girl with progressive weakness
Natashia Seemann, Craig Campbell, Robert Hammond, et al.
Brain & Development
|
July 23, 2011
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy
Asuri N Prasad, Charles A Rupar, Chitra Prasad
Pediatric Emergency Care
|
September 20, 2011
Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood
Aizeddin A Mhanni, Chitra Prasad, Cheryl Rockman-Greenberg
Paediatrics & Child Health
|
January 4, 2021
Bulging anterior fontanelle and dense bones in an infant
Camilla Raya Halgren, Jenna Lakhani, Samantha Colaiacovo, et al.
Indian Journal of Pediatrics
|
June 16, 2025
Long Term Follow up of Short-Chain-L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency Causing Hypoglycemia and Developmental Delays in Two Syrian Brothers
Annie Li, Robert Stein, C Anthony Rupar, et al.
The Journal of Pediatrics
|
April 8, 2004
The importance of gut motility in the metabolic control of propionic acidemia
Chitra Prasad, Samuel Nurko, Jacob Borovoy, et al.
Paediatrics & Child Health
|
February 27, 2018
Eight-year-old girl with hepatomegaly
Becky Biqi Chen, Chitra Prasad, Joanna C Walsh, et al.
Journal of Child Neurology
|
March 29, 2006
Congenital indifference to pain and deletion of chromosome 10q-: new association
Charuta Joshi, Angelika J Dawson, Shannon R Sanders, et al.
Clinical Dysmorphology
|
August 20, 2016
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer
Charushree Prasad, Melanie P Napier, Charles A Rupar, et al.
Page
of 12