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Irish Journal of Medical Science
|
January 15, 2020
The role of primary care in management of rare diseases in Ireland
Niall Byrne, Jacqueline Turner, Rita Marron, et al.
Molecular Genetics and Metabolism
|
January 20, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
Mendy M Welsink-Karssies, Michel van Weeghel, Carla E M Hollak, et al.
European Journal of Neurology
|
April 9, 2026
The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria
Sara Cannizzo, Vinciane Quoidbach, Bernadette Sheehan-Gilroy, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency
Ina Knerr, Roberto Colombo, Jill Urquhart, et al.
Orphanet Journal of Rare Diseases
|
April 25, 2012
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Minke H de Ru, Quirine Ga Teunissen, Johanna H van der Lee, et al.
Brain Communications
|
September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
Mendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Journal of Inherited Metabolic Disease
|
November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Lindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 19, 2020
Galactokinase deficiency: lessons from the GalNet registry
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Frontiers in Genetics
|
March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E Naomi Vos, Ivo Barić, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2019
The natural history of classic galactosemia: lessons from the GalNet registry
M E Rubio-Gozalbo, M Haskovic, A M Bosch, et al.
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of 10
Search research articles
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Showing results (91-100 of 100) with videos related to
Sort By:
Page
of 10
You have reached the last page of results.
This site can display upto 100 results.
Irish Journal of Medical Science
|
January 15, 2020
The role of primary care in management of rare diseases in Ireland
Niall Byrne, Jacqueline Turner, Rita Marron, et al.
Molecular Genetics and Metabolism
|
January 20, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
Mendy M Welsink-Karssies, Michel van Weeghel, Carla E M Hollak, et al.
European Journal of Neurology
|
April 9, 2026
The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria
Sara Cannizzo, Vinciane Quoidbach, Bernadette Sheehan-Gilroy, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency
Ina Knerr, Roberto Colombo, Jill Urquhart, et al.
Orphanet Journal of Rare Diseases
|
April 25, 2012
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Minke H de Ru, Quirine Ga Teunissen, Johanna H van der Lee, et al.
Brain Communications
|
September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
Mendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Journal of Inherited Metabolic Disease
|
November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Lindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 19, 2020
Galactokinase deficiency: lessons from the GalNet registry
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Frontiers in Genetics
|
March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E Naomi Vos, Ivo Barić, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2019
The natural history of classic galactosemia: lessons from the GalNet registry
M E Rubio-Gozalbo, M Haskovic, A M Bosch, et al.
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of 10