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JIMD Reports|November 15, 2024
The phenotypic spectrum of <i>PTCD3</i> deficiencyBaiba Lace, Eissa Faqeih, Namik Kaya, et al.
JIMD Reports|November 15, 2024
Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare diseaseJohn S Wang, Rebecca L Koch, Daniel Kenney-Jung, et al.
JIMD Reports|November 8, 2024
Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiencyPatrícia Lipari Pinto, Marjorie Dixon, Sniya Sudhakar, et al.
JIMD Reports|July 8, 2024
Two successful pregnancies -in patients taking Volanesorsen for familial chylomicronemia syndromeSubadra Wanninayake, Antonio Ochoa-Ferraro, Karishma Patel, et al.
JIMD Reports|July 8, 2024
A founder mutation in <i>CA5A</i> causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiencyKhalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, et al.
JIMD Reports|July 8, 2024
Riboflavin transporter deficiency in young adults unmasked by dietary changesBregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, et al.
JIMD Reports|May 13, 2024
Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelinesMarjorie Dixon, Chloe Millington, Laurie Bernstein, et al.
JIMD Reports|May 13, 2024
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, et al.
JIMD Reports|May 13, 2024
Oral ribose supplementation in dystroglycanopathy: A single case studyR M J Thewissen, M A Post, D M Maas, et al.
JIMD Reports|January 19, 2026
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case SeriesSamuel Quinn Tholl, Wendy McCaul, Anthony Rupar, et al.
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