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JIMD reports

Showing results (811-820 of 1,250) with videos related to

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JIMD Reports|June 27, 2019
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected motherPatricia Dubot, Léonardo Astudillo, Guy Touati, et al.
JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
JIMD Reports|June 27, 2019
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiencyKaren L Madsen, Nicolai Preisler, Astrid E Buch, et al.
JIMD Reports|June 27, 2019
A novel mutation in <i>VPS33B</i> gene causing a milder ARC syndrome phenotype with prolonged survivalRodrigo Del Brío Castillo, James E Squires, Patrick J McKiernan
JIMD Reports|June 27, 2019
A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in plateletsManisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, et al.
JIMD Reports|June 27, 2019
A fatal case of <i>COQ7</i>-associated primary coenzyme Q<sub>10</sub> deficiencyAnna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, et al.
JIMD Reports|June 24, 2017
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and HypoceruloplasminemiaPier Luigi Calvo, Marco Spada, Ivana Rabbone, et al.
JIMD Reports|June 24, 2017
Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1Nathalie Guffon, Anders Bröijersén, Ingrid Palmgren, et al.
JIMD Reports|March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical PhenotypeJ Reunert, A S Lotz-Havla, G Polo, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
Pageof 125

Showing results (811-820 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|June 27, 2019
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected motherPatricia Dubot, Léonardo Astudillo, Guy Touati, et al.
JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
JIMD Reports|June 27, 2019
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiencyKaren L Madsen, Nicolai Preisler, Astrid E Buch, et al.
JIMD Reports|June 27, 2019
A novel mutation in <i>VPS33B</i> gene causing a milder ARC syndrome phenotype with prolonged survivalRodrigo Del Brío Castillo, James E Squires, Patrick J McKiernan
JIMD Reports|June 27, 2019
A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in plateletsManisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, et al.
JIMD Reports|June 27, 2019
A fatal case of <i>COQ7</i>-associated primary coenzyme Q<sub>10</sub> deficiencyAnna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, et al.
JIMD Reports|June 24, 2017
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and HypoceruloplasminemiaPier Luigi Calvo, Marco Spada, Ivana Rabbone, et al.
JIMD Reports|June 24, 2017
Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1Nathalie Guffon, Anders Bröijersén, Ingrid Palmgren, et al.
JIMD Reports|March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical PhenotypeJ Reunert, A S Lotz-Havla, G Polo, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
Pageof 125