Showing results (61-70 of 1,261) with videos related to

Sort By:
Pageof 127
JIMD Reports|January 10, 2025
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporterVadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, et al.
JIMD Reports|December 26, 2024
Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experienceAhmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, et al.
JIMD Reports|December 26, 2024
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicingThomas Cassini, Sarah Silverstein, Molly Behan, et al.
JIMD Reports|December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseasesI J Hieltjes, J H van der Lee, M C Groenendijk, et al.
JIMD Reports|March 13, 2025
Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub-Saharan AfricaM Dercksen, M Perumal, E Davoren, et al.
JIMD Reports|April 7, 2025
Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High-Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in TaiwanChi-Tang Wu, Shih-Ju Huang, Chu-Chin Chen, et al.
JIMD Reports|November 15, 2024
Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatmentIgnacio Portales-Castillo, Rhea Singal, Anastasia Ambrose, et al.
JIMD Reports|November 8, 2024
Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centreReena Sharma, John Bassett, Karolina M Stepien, et al.
JIMD Reports|November 8, 2024
Clinical experience on switching trientine tetrahydrochloride to trientine dihydrochloride in Wilson disease patientsIsabelle Mohr, Timo Schmitt, Christophe Weber, et al.
JIMD Reports|November 8, 2024
Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiencyCallie Ferguson, Anita Madison, Ada Hamosh, et al.
Pageof 127