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Gerard T Berry

Showing results (91-100 of 138) with videos related to

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The Journal of Pediatrics|July 31, 2018
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B<sub>12</sub> Metabolism: Case Reports and Literature ReviewDolores Mullikin, Nishitha Pillai, Rossana Sanchez, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
The American Journal of Clinical Nutrition|March 5, 2025
Phenylketonuria in adults: we know plenty, but there is much more to learnCary O Harding, Georgianne Arnold, Gerard T Berry, et al.
Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Molecular Genetics and Metabolism|March 19, 2018
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiencyPatricia L Hall, Christina Lam, John J Alexander, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotypeValerie Gartner, Thomas C Markello, Ellen Macnamara, et al.
European Journal of Human Genetics : EJHG|February 20, 2014
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemiaMugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
Genetic Determinants of Sudden Unexpected Death in PediatricsHyun Yong Koh, Alireza Haghighi, Christine Keywan, et al.
JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
Pageof 14

Showing results (91-100 of 138) with videos related to

Sort By:
Pageof 14
The Journal of Pediatrics|July 31, 2018
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B<sub>12</sub> Metabolism: Case Reports and Literature ReviewDolores Mullikin, Nishitha Pillai, Rossana Sanchez, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
The American Journal of Clinical Nutrition|March 5, 2025
Phenylketonuria in adults: we know plenty, but there is much more to learnCary O Harding, Georgianne Arnold, Gerard T Berry, et al.
Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Molecular Genetics and Metabolism|March 19, 2018
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiencyPatricia L Hall, Christina Lam, John J Alexander, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotypeValerie Gartner, Thomas C Markello, Ellen Macnamara, et al.
European Journal of Human Genetics : EJHG|February 20, 2014
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemiaMugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
Genetic Determinants of Sudden Unexpected Death in PediatricsHyun Yong Koh, Alireza Haghighi, Christine Keywan, et al.
JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
Pageof 14