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Orphanet Journal of Rare Diseases
|
October 20, 2019
Cognitive functioning in patients with classical galactosemia: a systematic review
Merel E Hermans, Mendy M Welsink-Karssies, Annet M Bosch, et al.
Molecular Genetics and Metabolism
|
November 17, 2020
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome
Mendy M Welsink-Karssies, Anouk Schrantee, Matthan W A Caan, et al.
Pediatric Radiology
|
January 8, 2018
Juvenile idiopathic arthritis: magnetic resonance imaging of the clinically unaffected knee
E Charlotte van Gulik, Mendy M Welsink-Karssies, J Merlijn van den Berg, et al.
European Journal of Radiology
|
April 25, 2018
Normal MRI findings of the knee in patients with clinically active juvenile idiopathic arthritis
E Charlotte van Gulik, Robert Hemke, Mendy M Welsink-Karssies, et al.
Orphanet Journal of Rare Diseases
|
November 10, 2019
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
Nina A Zeltner, Mendy M Welsink-Karssies, Markus A Landolt, et al.
Orphanet Journal of Rare Diseases
|
February 9, 2020
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
Mendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
Orphanet Journal of Rare Diseases
|
September 7, 2020
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
Mendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
Journal of Inherited Metabolic Disease
|
October 7, 2019
Bone mineral density is within normal range in most adult phenylketonuria patients
Charlotte M A Lubout, Francisco Arrieta Blanco, Katarzyna Bartosiewicz, 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.
Journal of Inherited Metabolic Disease
|
December 18, 2019
The 1-<sup>13</sup> C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
Mendy M Welsink-Karssies, Dewi van Harskamp, Sacha Ferdinandusse, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Orphanet Journal of Rare Diseases
|
October 20, 2019
Cognitive functioning in patients with classical galactosemia: a systematic review
Merel E Hermans, Mendy M Welsink-Karssies, Annet M Bosch, et al.
Molecular Genetics and Metabolism
|
November 17, 2020
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome
Mendy M Welsink-Karssies, Anouk Schrantee, Matthan W A Caan, et al.
Pediatric Radiology
|
January 8, 2018
Juvenile idiopathic arthritis: magnetic resonance imaging of the clinically unaffected knee
E Charlotte van Gulik, Mendy M Welsink-Karssies, J Merlijn van den Berg, et al.
European Journal of Radiology
|
April 25, 2018
Normal MRI findings of the knee in patients with clinically active juvenile idiopathic arthritis
E Charlotte van Gulik, Robert Hemke, Mendy M Welsink-Karssies, et al.
Orphanet Journal of Rare Diseases
|
November 10, 2019
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
Nina A Zeltner, Mendy M Welsink-Karssies, Markus A Landolt, et al.
Orphanet Journal of Rare Diseases
|
February 9, 2020
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
Mendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
Orphanet Journal of Rare Diseases
|
September 7, 2020
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
Mendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
Journal of Inherited Metabolic Disease
|
October 7, 2019
Bone mineral density is within normal range in most adult phenylketonuria patients
Charlotte M A Lubout, Francisco Arrieta Blanco, Katarzyna Bartosiewicz, 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.
Journal of Inherited Metabolic Disease
|
December 18, 2019
The 1-<sup>13</sup> C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
Mendy M Welsink-Karssies, Dewi van Harskamp, Sacha Ferdinandusse, et al.
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of 2