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Journal of Inherited Metabolic Disease
|
July 14, 2010
Classic galactosemia: dietary dilemmas
Annet M Bosch
Journal of Inherited Metabolic Disease
|
July 14, 2006
Classical galactosaemia revisited
Annet M Bosch
Developmental Period Medicine
|
October 4, 2018
Galactosaemia - should it be screened in newborns?
Annet M Bosch
Journal of Inherited Metabolic Disease
|
March 15, 2016
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience
Bregje Jaeger, Annet M Bosch
Journal of Inherited Metabolic Disease
|
February 23, 2019
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency
Benjamin O'Callaghan, Annet M Bosch, Henry Houlden
European Journal of Pediatrics
|
July 10, 2015
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
Hidde H Huidekoper, Frédéric M Vaz, Aad Verrips, et al.
JIMD Reports
|
March 6, 2024
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients
Merel E Hermans, Gert J Geurtsen, Carla E M Hollak, et al.
Nature Reviews. Disease Primers
|
May 21, 2021
Phenylketonuria
Francjan J van Spronsen, Nenad Blau, Cary Harding, et al.
JIMD Reports
|
July 8, 2024
Riboflavin transporter deficiency in young adults unmasked by dietary changes
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, et al.
Orphanet Journal of Rare Diseases
|
May 11, 2015
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires
Antoine Regnault, Alberto Burlina, Amy Cunningham, et al.
Page
of 11
Search research articles
Search
Showing results (1-10 of 103) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
July 14, 2010
Classic galactosemia: dietary dilemmas
Annet M Bosch
Journal of Inherited Metabolic Disease
|
July 14, 2006
Classical galactosaemia revisited
Annet M Bosch
Developmental Period Medicine
|
October 4, 2018
Galactosaemia - should it be screened in newborns?
Annet M Bosch
Journal of Inherited Metabolic Disease
|
March 15, 2016
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience
Bregje Jaeger, Annet M Bosch
Journal of Inherited Metabolic Disease
|
February 23, 2019
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency
Benjamin O'Callaghan, Annet M Bosch, Henry Houlden
European Journal of Pediatrics
|
July 10, 2015
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
Hidde H Huidekoper, Frédéric M Vaz, Aad Verrips, et al.
JIMD Reports
|
March 6, 2024
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients
Merel E Hermans, Gert J Geurtsen, Carla E M Hollak, et al.
Nature Reviews. Disease Primers
|
May 21, 2021
Phenylketonuria
Francjan J van Spronsen, Nenad Blau, Cary Harding, et al.
JIMD Reports
|
July 8, 2024
Riboflavin transporter deficiency in young adults unmasked by dietary changes
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, et al.
Orphanet Journal of Rare Diseases
|
May 11, 2015
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires
Antoine Regnault, Alberto Burlina, Amy Cunningham, et al.
Page
of 11