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Gisela Wilcox

Showing results (11-20 of 23) with videos related to

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Journal of Nephrology|December 19, 2024
Epidemiology and early predictors of Fabry nephropathy: evaluation of long-term outcomes from a national Fabry centreFahmida Mannan, Rajkumar Chinnadurai, Ryan Wiltshire, et al.
Orphanet Journal of Rare Diseases|September 4, 2023
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophyEleanor Palmer, Karolina M Stepien, Christopher Campbell, et al.
Nutrients|April 30, 2021
Growth and Body Composition in PKU Children-A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein SubstitutesAnne Daly, Wolfgang Högler, Nicola Crabtree, et al.
Molecular Genetics and Metabolism Reports|November 24, 2021
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trialsBarbara K Burton, Anne Skalicky, Christoph Baerwald, et al.
Nutrients|July 2, 2021
A Three-Year Longitudinal Study Comparing Bone Mass, Density, and Geometry Measured by DXA, pQCT, and Bone Turnover Markers in Children with PKU Taking L-Amino Acid or Glycomacropeptide Protein SubstitutesAnne Daly, Wolfgang Högler, Nicola Crabtree, et al.
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
Nutrients|November 3, 2020
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UKAlex Pinto, Catherine Ashmore, Spyros Batzios, et al.
Molecular Genetics and Metabolism|May 20, 2019
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuriaAnia C Muntau, Darius J Adams, Amaya Bélanger-Quintana, et al.
Archives of Disease in Childhood|May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencingArunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Journal of Nephrology|December 19, 2024
Epidemiology and early predictors of Fabry nephropathy: evaluation of long-term outcomes from a national Fabry centreFahmida Mannan, Rajkumar Chinnadurai, Ryan Wiltshire, et al.
Orphanet Journal of Rare Diseases|September 4, 2023
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophyEleanor Palmer, Karolina M Stepien, Christopher Campbell, et al.
Nutrients|April 30, 2021
Growth and Body Composition in PKU Children-A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein SubstitutesAnne Daly, Wolfgang Högler, Nicola Crabtree, et al.
Molecular Genetics and Metabolism Reports|November 24, 2021
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trialsBarbara K Burton, Anne Skalicky, Christoph Baerwald, et al.
Nutrients|July 2, 2021
A Three-Year Longitudinal Study Comparing Bone Mass, Density, and Geometry Measured by DXA, pQCT, and Bone Turnover Markers in Children with PKU Taking L-Amino Acid or Glycomacropeptide Protein SubstitutesAnne Daly, Wolfgang Högler, Nicola Crabtree, et al.
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
Nutrients|November 3, 2020
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UKAlex Pinto, Catherine Ashmore, Spyros Batzios, et al.
Molecular Genetics and Metabolism|May 20, 2019
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuriaAnia C Muntau, Darius J Adams, Amaya Bélanger-Quintana, et al.
Archives of Disease in Childhood|May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencingArunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Pageof 3