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JIMD reports

Showing results (351-360 of 1,270) with videos related to

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JIMD Reports|September 13, 2023
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapyDavid G Jackson, Rebecca L Koch, Surekha Pendyal, et al.
JIMD Reports|July 5, 2023
Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac deathPrapti Singh, Deirdre Amaro, Olugbemisola Obi, et al.
JIMD Reports|February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter diseaseCarolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
JIMD Reports|February 20, 2020
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming beltHava Peretz, Michael Korostishevsky, David M Steinberg, et al.
JIMD Reports|February 20, 2020
Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center studyJessica Tao, C Anthony Rupar, Michael R Miller, et al.
JIMD Reports|November 18, 2020
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case reportParith Wongkittichote, James R Watson, Jennifer M Leonard, et al.
JIMD Reports|November 18, 2020
Neonatal carnitine concentrations in relation to gestational age and weightLoek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, et al.
JIMD Reports|September 9, 2020
Use of carglumic acid in valproate-induced hyperammonemia: 25 pediatric casesLaura María Palomino Pérez, Álvaro Martín-Rivada, Elvira Cañedo Villaroya, et al.
JIMD Reports|September 9, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotypeKatalin Komlosi, Selina Gläser, Julia Kopp, et al.
JIMD Reports|September 9, 2020
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosisTracey A Conlon, Patricia E Fitzsimons, Ingrid Borovickova, et al.
Pageof 127

Showing results (351-360 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|September 13, 2023
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapyDavid G Jackson, Rebecca L Koch, Surekha Pendyal, et al.
JIMD Reports|July 5, 2023
Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac deathPrapti Singh, Deirdre Amaro, Olugbemisola Obi, et al.
JIMD Reports|February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter diseaseCarolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
JIMD Reports|February 20, 2020
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming beltHava Peretz, Michael Korostishevsky, David M Steinberg, et al.
JIMD Reports|February 20, 2020
Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center studyJessica Tao, C Anthony Rupar, Michael R Miller, et al.
JIMD Reports|November 18, 2020
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case reportParith Wongkittichote, James R Watson, Jennifer M Leonard, et al.
JIMD Reports|November 18, 2020
Neonatal carnitine concentrations in relation to gestational age and weightLoek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, et al.
JIMD Reports|September 9, 2020
Use of carglumic acid in valproate-induced hyperammonemia: 25 pediatric casesLaura María Palomino Pérez, Álvaro Martín-Rivada, Elvira Cañedo Villaroya, et al.
JIMD Reports|September 9, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotypeKatalin Komlosi, Selina Gläser, Julia Kopp, et al.
JIMD Reports|September 9, 2020
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosisTracey A Conlon, Patricia E Fitzsimons, Ingrid Borovickova, et al.
Pageof 127