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Translational Research : the Journal of Laboratory and Clinical Medicine
|
July 27, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
Nurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2020
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland
Daniel O'Reilly, Ellen Crushell, Joanne Hughes, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency
Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.
Archives of Disease in Childhood
|
March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
Orphanet Journal of Rare Diseases
|
October 4, 2013
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Eveline J Langereis, Andrea Borgo, Ellen Crushell, et al.
Journal of Inherited Metabolic Disease
|
July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
The Journal of Pediatrics
|
October 27, 2018
As Few Pediatricians as Possible and as Many Pediatricians as Necessary?
Jochen Ehrich, Laila Burla, Angel Carrasco Sanz, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
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of 7
Search research articles
Search
Showing results (41-50 of 66) with videos related to
Sort By:
Page
of 7
Translational Research : the Journal of Laboratory and Clinical Medicine
|
July 27, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
Nurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2020
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland
Daniel O'Reilly, Ellen Crushell, Joanne Hughes, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency
Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.
Archives of Disease in Childhood
|
March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
Orphanet Journal of Rare Diseases
|
October 4, 2013
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Eveline J Langereis, Andrea Borgo, Ellen Crushell, et al.
Journal of Inherited Metabolic Disease
|
July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
The Journal of Pediatrics
|
October 27, 2018
As Few Pediatricians as Possible and as Many Pediatricians as Necessary?
Jochen Ehrich, Laila Burla, Angel Carrasco Sanz, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
Page
of 7