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Med (New York, N.Y.)
|
November 15, 2024
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy
Alessandro Rossi, Roberta Romano, Simona Fecarotta, et al.
BMC Pediatrics
|
April 18, 2015
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
Sara D Khangura, Maria D Karaceper, Yannis Trakadis, et al.
American Journal of Human Genetics
|
January 10, 2015
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease
Kevin A Strauss, Robert N Jinks, Erik G Puffenberger, et al.
Brain : a Journal of Neurology
|
March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Rebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
Orphanet Journal of Rare Diseases
|
February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Maria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Human Mutation
|
January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes
Jennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.
The Patient
|
July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey
Andrea J Chow, Michael Pugliese, Laure A Tessier, et al.
American Journal of Human Genetics
|
April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Neurology
|
August 25, 2022
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
Curtis R Coughlin, Laura A Tseng, Levinus A Bok, et al.
Orphanet Journal of Rare Diseases
|
December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Shabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
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Showing results (81-90 of 114) with videos related to
Sort By:
Page
of 12
Med (New York, N.Y.)
|
November 15, 2024
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy
Alessandro Rossi, Roberta Romano, Simona Fecarotta, et al.
BMC Pediatrics
|
April 18, 2015
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
Sara D Khangura, Maria D Karaceper, Yannis Trakadis, et al.
American Journal of Human Genetics
|
January 10, 2015
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease
Kevin A Strauss, Robert N Jinks, Erik G Puffenberger, et al.
Brain : a Journal of Neurology
|
March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Rebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
Orphanet Journal of Rare Diseases
|
February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Maria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Human Mutation
|
January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes
Jennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.
The Patient
|
July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey
Andrea J Chow, Michael Pugliese, Laure A Tessier, et al.
American Journal of Human Genetics
|
April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Neurology
|
August 25, 2022
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
Curtis R Coughlin, Laura A Tseng, Levinus A Bok, et al.
Orphanet Journal of Rare Diseases
|
December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Shabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
Page
of 12