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JIMD Reports
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September 6, 2021
Abnormal <i>N</i>-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake
Eileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
JIMD Reports
|
May 13, 2020
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency
Madalyn Brown, Coleman Turgeon, Piero Rinaldo, et al.
JIMD Reports
|
March 6, 2023
Autonomic instability, arrhythmia and visual impairment in a new presentation of <i>MTFMT</i>-related mitochondrial disease
Caoimhe Howard, Arundhati Dev-Borman, John Stokes, et al.
JIMD Reports
|
March 6, 2023
Visual impairment in mucopolysaccharidosis VI
Augusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, et al.
JIMD Reports
|
March 6, 2023
Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
Margot Eyskens, Luc Bruyndonckx, André B P Van Kuilenburg, et al.
JIMD Reports
|
March 6, 2023
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)
Ruqaiah Altassan, Dimpna C Albert-Brotons, Mohammad Alowain, et al.
JIMD Reports
|
November 13, 2025
Correction to "Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome"
JIMD Reports
|
January 23, 2026
Identification of Additional Cases of Severe Neonatal GABA-Transaminase Deficiency
Deima Alammary, Tisiana Low, Ganesh Srinivasan, et al.
JIMD Reports
|
January 14, 2026
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis
Molly M Crenshaw, Yasmeen Midgette, Shruthi Mohan, et al.
JIMD Reports
|
January 9, 2026
Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience
Anne-Sophie Adam, Lionel Marcélis, David Fage, et al.
Page
of 125
Search research articles
Search
Showing results (851-860 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
September 6, 2021
Abnormal <i>N</i>-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake
Eileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
JIMD Reports
|
May 13, 2020
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency
Madalyn Brown, Coleman Turgeon, Piero Rinaldo, et al.
JIMD Reports
|
March 6, 2023
Autonomic instability, arrhythmia and visual impairment in a new presentation of <i>MTFMT</i>-related mitochondrial disease
Caoimhe Howard, Arundhati Dev-Borman, John Stokes, et al.
JIMD Reports
|
March 6, 2023
Visual impairment in mucopolysaccharidosis VI
Augusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, et al.
JIMD Reports
|
March 6, 2023
Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
Margot Eyskens, Luc Bruyndonckx, André B P Van Kuilenburg, et al.
JIMD Reports
|
March 6, 2023
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)
Ruqaiah Altassan, Dimpna C Albert-Brotons, Mohammad Alowain, et al.
JIMD Reports
|
November 13, 2025
Correction to "Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome"
JIMD Reports
|
January 23, 2026
Identification of Additional Cases of Severe Neonatal GABA-Transaminase Deficiency
Deima Alammary, Tisiana Low, Ganesh Srinivasan, et al.
JIMD Reports
|
January 14, 2026
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis
Molly M Crenshaw, Yasmeen Midgette, Shruthi Mohan, et al.
JIMD Reports
|
January 9, 2026
Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience
Anne-Sophie Adam, Lionel Marcélis, David Fage, et al.
Page
of 125