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JIMD reports

Showing results (391-400 of 1,250) with videos related to

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JIMD Reports|February 23, 2013
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrationsFlorina Ion Popa, Silvia Perlini, Francesca Teofoli, et al.
JIMD Reports|February 23, 2013
Long-term pharmacological management of phenylketonuria, including patients below the age of 4 yearsM L Couce, M D Bóveda, E Valerio, et al.
JIMD Reports|February 23, 2013
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patientsSébastien Lévesque, Marie Lambert, Aspasia Karalis, et al.
JIMD Reports|February 23, 2013
Large mitochondrial DNA deletion in an infant with addison diseaseGloria P Duran, A Martinez-Aguayo, H Poggi, et al.
JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.
JIMD Reports|February 23, 2013
Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantationAhmed M Alkhunaizi, Nouriya A Al-Sannaa, Wasim F Raslan
JIMD Reports|February 23, 2013
Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patientsElisabeth De Greef, John Christodoulou, Ian E Alexander, et al.
JIMD Reports|February 23, 2013
Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patientsCristina Villar, Jaume Campistol, Carmen Fons, et al.
JIMD Reports|February 23, 2013
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria PatientsManuel Méndez, Barbara X Granata, María J Morán Jiménez, et al.
JIMD Reports|February 23, 2013
Galactokinase deficiency in a patient with congenital hyperinsulinismMashbat Bayarchimeg, Dunia Ismail, Amanda Lam, et al.
Pageof 125

Showing results (391-400 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 23, 2013
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrationsFlorina Ion Popa, Silvia Perlini, Francesca Teofoli, et al.
JIMD Reports|February 23, 2013
Long-term pharmacological management of phenylketonuria, including patients below the age of 4 yearsM L Couce, M D Bóveda, E Valerio, et al.
JIMD Reports|February 23, 2013
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patientsSébastien Lévesque, Marie Lambert, Aspasia Karalis, et al.
JIMD Reports|February 23, 2013
Large mitochondrial DNA deletion in an infant with addison diseaseGloria P Duran, A Martinez-Aguayo, H Poggi, et al.
JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.
JIMD Reports|February 23, 2013
Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantationAhmed M Alkhunaizi, Nouriya A Al-Sannaa, Wasim F Raslan
JIMD Reports|February 23, 2013
Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patientsElisabeth De Greef, John Christodoulou, Ian E Alexander, et al.
JIMD Reports|February 23, 2013
Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patientsCristina Villar, Jaume Campistol, Carmen Fons, et al.
JIMD Reports|February 23, 2013
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria PatientsManuel Méndez, Barbara X Granata, María J Morán Jiménez, et al.
JIMD Reports|February 23, 2013
Galactokinase deficiency in a patient with congenital hyperinsulinismMashbat Bayarchimeg, Dunia Ismail, Amanda Lam, et al.
Pageof 125