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JIMD Reports
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July 3, 2025
The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant
Nuria Puente-Ruiz, Saru Palaniappan, Alison Woodall, et al.
JIMD Reports
|
May 12, 2025
Orthotopic Liver Transplantation in a Patient With <i>GALT</i>p.Ser135Leu/Null
Kara Simpson, Erin L MacLeod, Julia Clayton, et al.
JIMD Reports
|
August 8, 2025
Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome
Nathanael C C Lucas, Claire Horgan, Omima Mustafa, et al.
JIMD Reports
|
October 17, 2025
Small Molecules as Alternate Substrates for 3-Methylglutaconylation
Elizabeth A Jennings, Irina Romenskaia, Robert O Ryan
JIMD Reports
|
September 29, 2025
Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey
Paolo Manzi, Anita Vergatti, Veronica Abate, et al.
JIMD Reports
|
January 26, 2026
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis
Jennifer L Cohen, M Makenzie Beaman, Eleanor Rodriguez-Rassi, et al.
JIMD Reports
|
June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder
Marya S Sabir, Laura Pollard, Lynne Wolfe, et al.
JIMD Reports
|
March 6, 2024
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, et al.
JIMD Reports
|
March 6, 2024
5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
Lelde Liepina, Desiree E C Smith, Hidde Huidekoper, et al.
JIMD Reports
|
May 13, 2024
Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, et al.
Page
of 125
Search research articles
Search
Showing results (571-580 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
July 3, 2025
The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant
Nuria Puente-Ruiz, Saru Palaniappan, Alison Woodall, et al.
JIMD Reports
|
May 12, 2025
Orthotopic Liver Transplantation in a Patient With <i>GALT</i>p.Ser135Leu/Null
Kara Simpson, Erin L MacLeod, Julia Clayton, et al.
JIMD Reports
|
August 8, 2025
Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome
Nathanael C C Lucas, Claire Horgan, Omima Mustafa, et al.
JIMD Reports
|
October 17, 2025
Small Molecules as Alternate Substrates for 3-Methylglutaconylation
Elizabeth A Jennings, Irina Romenskaia, Robert O Ryan
JIMD Reports
|
September 29, 2025
Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey
Paolo Manzi, Anita Vergatti, Veronica Abate, et al.
JIMD Reports
|
January 26, 2026
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis
Jennifer L Cohen, M Makenzie Beaman, Eleanor Rodriguez-Rassi, et al.
JIMD Reports
|
June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder
Marya S Sabir, Laura Pollard, Lynne Wolfe, et al.
JIMD Reports
|
March 6, 2024
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
Déborah Mathis, Jean-Christophe Prost, Gabriela Maeder, et al.
JIMD Reports
|
March 6, 2024
5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
Lelde Liepina, Desiree E C Smith, Hidde Huidekoper, et al.
JIMD Reports
|
May 13, 2024
Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, et al.
Page
of 125