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JIMD reports

Showing results (441-450 of 1,250) with videos related to

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JIMD Reports|March 4, 2015
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard TestingBethanny Smith-Packard, Scott M Myers, Marc S Williams
JIMD Reports|March 13, 2015
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent SymptomsJoanne T Marsden, Simon Guppy, Penelope Stein, et al.
JIMD Reports|March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyAlina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
JIMD Reports|March 13, 2015
Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)Hao-Chuan Liu, Amandine Perrin, Ting-Rong Hsu, et al.
JIMD Reports|March 17, 2015
The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type SpecificSusana Ferreira, Carlos Reguenga, João Paulo Oliveira
JIMD Reports|March 17, 2015
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine LevelRebecca C Ahrens-Nicklas, Esra Serdaroglu, Colleen Muraresku, et al.
JIMD Reports|March 28, 2015
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL GeneDezső David, Lígia S Almeida, Maristella Maggi, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
JIMD Reports|July 21, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature reviewLaurien Vaes, George E Tiller, Belén Pérez, et al.
JIMD Reports|July 21, 2020
An uncommon cause of early infantile liver disease and raised chitotriosidaseSrividya Sreekantam, Hina Rizvi, Rachel Brown, et al.
Pageof 125

Showing results (441-450 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|March 4, 2015
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard TestingBethanny Smith-Packard, Scott M Myers, Marc S Williams
JIMD Reports|March 13, 2015
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent SymptomsJoanne T Marsden, Simon Guppy, Penelope Stein, et al.
JIMD Reports|March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyAlina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
JIMD Reports|March 13, 2015
Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)Hao-Chuan Liu, Amandine Perrin, Ting-Rong Hsu, et al.
JIMD Reports|March 17, 2015
The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type SpecificSusana Ferreira, Carlos Reguenga, João Paulo Oliveira
JIMD Reports|March 17, 2015
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine LevelRebecca C Ahrens-Nicklas, Esra Serdaroglu, Colleen Muraresku, et al.
JIMD Reports|March 28, 2015
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL GeneDezső David, Lígia S Almeida, Maristella Maggi, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
JIMD Reports|July 21, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature reviewLaurien Vaes, George E Tiller, Belén Pérez, et al.
JIMD Reports|July 21, 2020
An uncommon cause of early infantile liver disease and raised chitotriosidaseSrividya Sreekantam, Hina Rizvi, Rachel Brown, et al.
Pageof 125