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JIMD reports

Showing results (1001-1010 of 1,250) with videos related to

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JIMD Reports|November 20, 2019
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathyWalinka van Tol, Angel Ashikov, Eckhard Korsch, et al.
JIMD Reports|March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidenceBernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
JIMD Reports|December 3, 2019
A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factorDina Khalaf, Heather Bell, David Dale, et al.
JIMD Reports|June 17, 2025
Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to ManagementA Terrell, K Sapp, B Graham, et al.
JIMD Reports|July 8, 2025
Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth SyndromeW Todd Cade, Kathryn L Bohnert, Linda R Peterson, et al.
JIMD Reports|December 30, 2025
A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the SignsMerve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, et al.
JIMD Reports|December 29, 2025
Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature ReviewDalia Said, Aisha Al Shamsi
JIMD Reports|February 6, 2026
Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the LiteratureBrandon K Walther, Brittany M Murray, Poornima Pandiyan, et al.
JIMD Reports|May 14, 2025
Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <i>SERAC1</i>Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, et al.
JIMD Reports|May 14, 2025
Successful Pregnancy Management of a Woman With Severe Methylmalonic AcidemiaM Woidy, K Tsiakas, M Mahmud, et al.
Pageof 125

Showing results (1001-1010 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|November 20, 2019
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathyWalinka van Tol, Angel Ashikov, Eckhard Korsch, et al.
JIMD Reports|March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidenceBernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
JIMD Reports|December 3, 2019
A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factorDina Khalaf, Heather Bell, David Dale, et al.
JIMD Reports|June 17, 2025
Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to ManagementA Terrell, K Sapp, B Graham, et al.
JIMD Reports|July 8, 2025
Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth SyndromeW Todd Cade, Kathryn L Bohnert, Linda R Peterson, et al.
JIMD Reports|December 30, 2025
A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the SignsMerve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, et al.
JIMD Reports|December 29, 2025
Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature ReviewDalia Said, Aisha Al Shamsi
JIMD Reports|February 6, 2026
Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the LiteratureBrandon K Walther, Brittany M Murray, Poornima Pandiyan, et al.
JIMD Reports|May 14, 2025
Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <i>SERAC1</i>Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, et al.
JIMD Reports|May 14, 2025
Successful Pregnancy Management of a Woman With Severe Methylmalonic AcidemiaM Woidy, K Tsiakas, M Mahmud, et al.
Pageof 125