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John H Walter

Showing results (11-20 of 27) with videos related to

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Journal of the American Podiatric Medical Association|July 22, 2004
Complications of intra-articular fractures of the calcaneusJohn H Walter, Matthew S Rockett, Larry R Goss
Human Genetics|August 19, 2008
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiencyCheryl K Ridout, Ruth M Brown, John H Walter, et al.
Human Mutation|January 15, 2004
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuriaStuart J Moat, Liming Bao, Brian Fowler, et al.
Orphanet Journal of Rare Diseases|May 11, 2011
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantationJames E Davison, Nigel P Davies, Martin Wilson, et al.
JIMD Reports|February 23, 2013
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early InfancyMonique G M de Sain-van der Velden, Piero Rinaldo, Bert Elvers, et al.
Journal of Inherited Metabolic Disease|April 24, 2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersRoland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease|December 23, 2015
Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Journal of Inherited Metabolic Disease|January 14, 2018
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersRoland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
The Lancet. Diabetes & Endocrinology|January 14, 2017
Key European guidelines for the diagnosis and management of patients with phenylketonuriaFrancjan J van Spronsen, Annemiek Mj van Wegberg, Kirsten Ahring, et al.
Journal of Inherited Metabolic Disease|December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Journal of the American Podiatric Medical Association|July 22, 2004
Complications of intra-articular fractures of the calcaneusJohn H Walter, Matthew S Rockett, Larry R Goss
Human Genetics|August 19, 2008
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiencyCheryl K Ridout, Ruth M Brown, John H Walter, et al.
Human Mutation|January 15, 2004
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuriaStuart J Moat, Liming Bao, Brian Fowler, et al.
Orphanet Journal of Rare Diseases|May 11, 2011
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantationJames E Davison, Nigel P Davies, Martin Wilson, et al.
JIMD Reports|February 23, 2013
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early InfancyMonique G M de Sain-van der Velden, Piero Rinaldo, Bert Elvers, et al.
Journal of Inherited Metabolic Disease|April 24, 2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersRoland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease|December 23, 2015
Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Journal of Inherited Metabolic Disease|January 14, 2018
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersRoland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
The Lancet. Diabetes & Endocrinology|January 14, 2017
Key European guidelines for the diagnosis and management of patients with phenylketonuriaFrancjan J van Spronsen, Annemiek Mj van Wegberg, Kirsten Ahring, et al.
Journal of Inherited Metabolic Disease|December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Pageof 3