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Molecular Genetics and Metabolism
|
August 2, 2016
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
Kristi Bentler, Shaohui Zhai, Sara A Elsbecker, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 28, 2019
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study
Christine E Hofmann, Paul Harmatz, Jerry Vockley, et al.
Scientific Reports
|
January 20, 2018
Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency
Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 22, 2023
The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare
Jerry Vockley, Nicola Brunetti-Pierri, Wendy K Chung, et al.
Plos One
|
May 26, 2012
Mitochondrial structure, function and dynamics are temporally controlled by c-Myc
J Anthony Graves, Yudong Wang, Sunder Sims-Lucas, et al.
Psychological Medicine
|
November 4, 2022
Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior
Lisa A Pan, Anna Maria Segreti, Joseph Wrobleski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Jerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 28, 2023
Response to Beretich and Beretich
Jerry Vockley, Nicola Brunetti-Pierri, Wendy K Chung, et al.
Molecular Genetics and Metabolism
|
September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years
Susan A Berry, Nicola Longo, George A Diaz, et al.
Clinical Transplantation
|
September 27, 2019
Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation
Neslihan Celik, Beau Kelly, Kyle Soltys, et al.
Page
of 30
Search research articles
Search
Showing results (191-200 of 295) with videos related to
Sort By:
Page
of 30
Molecular Genetics and Metabolism
|
August 2, 2016
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
Kristi Bentler, Shaohui Zhai, Sara A Elsbecker, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 28, 2019
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study
Christine E Hofmann, Paul Harmatz, Jerry Vockley, et al.
Scientific Reports
|
January 20, 2018
Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency
Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 22, 2023
The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare
Jerry Vockley, Nicola Brunetti-Pierri, Wendy K Chung, et al.
Plos One
|
May 26, 2012
Mitochondrial structure, function and dynamics are temporally controlled by c-Myc
J Anthony Graves, Yudong Wang, Sunder Sims-Lucas, et al.
Psychological Medicine
|
November 4, 2022
Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior
Lisa A Pan, Anna Maria Segreti, Joseph Wrobleski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Jerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 28, 2023
Response to Beretich and Beretich
Jerry Vockley, Nicola Brunetti-Pierri, Wendy K Chung, et al.
Molecular Genetics and Metabolism
|
September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years
Susan A Berry, Nicola Longo, George A Diaz, et al.
Clinical Transplantation
|
September 27, 2019
Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation
Neslihan Celik, Beau Kelly, Kyle Soltys, et al.
Page
of 30