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Annette Feigenbaum

Showing results (41-50 of 68) with videos related to

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American Journal of Human Genetics|January 27, 2015
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndromeFrank Rutsch, Mary MacDougall, Changming Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2012
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence frameworkBeth K Potter, Pranesh Chakraborty, Jonathan B Kronick, et al.
Annals of Neurology|September 3, 2002
Mitochondrial DNA depletion and dGK gene mutationsLeonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso, et al.
Molecular Genetics and Metabolism Reports|March 18, 2021
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemiaYue Huang, Rajesh Sharma, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|August 7, 2023
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretationMay Flowers, Alexa Dickson, Marcus J Miller, et al.
Brain : a Journal of Neurology|March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathySietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.
Molecular Genetics and Metabolism|June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with cautionSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Molecular Genetics and Metabolism|July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patientsGeorge A Diaz, Andreas Schulze, Nicola Longo, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe diseaseZoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|January 27, 2015
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndromeFrank Rutsch, Mary MacDougall, Changming Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2012
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence frameworkBeth K Potter, Pranesh Chakraborty, Jonathan B Kronick, et al.
Annals of Neurology|September 3, 2002
Mitochondrial DNA depletion and dGK gene mutationsLeonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso, et al.
Molecular Genetics and Metabolism Reports|March 18, 2021
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemiaYue Huang, Rajesh Sharma, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|August 7, 2023
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretationMay Flowers, Alexa Dickson, Marcus J Miller, et al.
Brain : a Journal of Neurology|March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathySietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.
Molecular Genetics and Metabolism|June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with cautionSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Molecular Genetics and Metabolism|July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patientsGeorge A Diaz, Andreas Schulze, Nicola Longo, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe diseaseZoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Pageof 7