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JIMD reports

Showing results (381-390 of 1,250) with videos related to

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JIMD Reports|February 23, 2013
Ceftriaxone for Alexander's Disease: A Four-Year Follow-UpGianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, et al.
JIMD Reports|February 23, 2013
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 GeneTalita E R Adelino, Gustavo G Martins, Aretta A A Gomes, et al.
JIMD Reports|February 23, 2013
Partial Pyridoxine Responsiveness in PNPO DeficiencyPhillip L Pearl, Keith Hyland, J Chiles, et al.
JIMD Reports|February 23, 2013
Chitotriosidase deficiency: a mutation update in an african populationSilke Arndt, Angela Hobbs, Iain Sinclaire, et al.
JIMD Reports|February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case reportCurtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
JIMD Reports|February 23, 2013
Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physiciansDavid J Coman, Ian M Hayes, Veronica Collins, et al.
JIMD Reports|February 23, 2013
Outcomes of phenylketonuria with relevance to follow-upF J van Spronsen, A Bélanger-Quintana
JIMD Reports|February 23, 2013
Cardiac arrest in kearns-sayre syndromeIngrid van Beynum, Eva Morava, Marjan Taher, et al.
JIMD Reports|February 23, 2013
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiencyK Hayasaka, C Numakura, K Toyota, et al.
JIMD Reports|February 23, 2013
Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemiaMatthias Gautschi, Mladen Pavlovic, Jean-Marc Nuoffer
Pageof 125

Showing results (381-390 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 23, 2013
Ceftriaxone for Alexander's Disease: A Four-Year Follow-UpGianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, et al.
JIMD Reports|February 23, 2013
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 GeneTalita E R Adelino, Gustavo G Martins, Aretta A A Gomes, et al.
JIMD Reports|February 23, 2013
Partial Pyridoxine Responsiveness in PNPO DeficiencyPhillip L Pearl, Keith Hyland, J Chiles, et al.
JIMD Reports|February 23, 2013
Chitotriosidase deficiency: a mutation update in an african populationSilke Arndt, Angela Hobbs, Iain Sinclaire, et al.
JIMD Reports|February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case reportCurtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
JIMD Reports|February 23, 2013
Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physiciansDavid J Coman, Ian M Hayes, Veronica Collins, et al.
JIMD Reports|February 23, 2013
Outcomes of phenylketonuria with relevance to follow-upF J van Spronsen, A Bélanger-Quintana
JIMD Reports|February 23, 2013
Cardiac arrest in kearns-sayre syndromeIngrid van Beynum, Eva Morava, Marjan Taher, et al.
JIMD Reports|February 23, 2013
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiencyK Hayasaka, C Numakura, K Toyota, et al.
JIMD Reports|February 23, 2013
Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemiaMatthias Gautschi, Mladen Pavlovic, Jean-Marc Nuoffer
Pageof 125