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JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
JIMD Reports|May 8, 2023
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBASBianca Peters, Felix Wiemers, Dominic Lenz, et al.
JIMD Reports|January 28, 2014
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic CystinosisNeveen A Soliman, Mohamed A Elmonem, Lambertus van den Heuvel, et al.
JIMD Reports|May 23, 2014
Laronidase replacement therapy and left ventricular function in mucopolysaccharidosis IHaruhito Harada, Hiroshi Niiyama, Atsushi Katoh, et al.
JIMD Reports|September 14, 2022
Bone disease in early detected Gaucher Type I disease: A case reportVincenza Gragnaniello, Alessandro P Burlina, Renzo Manara, et al.
JIMD Reports|September 14, 2022
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case reportNina N Stolwijk, Mirjam Langeveld, Bart A W Jacobs, et al.
JIMD Reports|September 14, 2022
A cross-sectional natural history study of aspartylglucosaminuriaKimberly Goodspeed, Daniel Horton, Andrea Lowden, et al.
JIMD Reports|September 14, 2022
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorderMilena M Andzelm, Shanti Balasubramaniam, Edward Yang, et al.
JIMD Reports|November 6, 2023
Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American originShelby L Mills, Paige Roberts, Myla Ashfaq, et al.
JIMD Reports|November 6, 2023
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry diseasePaulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, et al.
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