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JIMD Reports|July 8, 2024
Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type IaA B Schreuder, R J Overduin, N C Peltenburg, et al.JIMD Reports|July 5, 2023
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.JIMD Reports|July 5, 2023
CORRIGENDUMJIMD Reports|July 5, 2023
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defectsAbigail Whitehouse, Preeya Rehsi, Louise Hartley, et al.JIMD Reports|September 9, 2020
Improved electroretinographic responses following dietary intervention in a patient with Refsum diseaseMatthew D Benson, Ian M MacDonald, Melissa Sheehan, et al.JIMD Reports|September 9, 2020
Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorderAshley Wilson, Vivian Cruz, Jonathan B KronickJIMD Reports|March 11, 2020
Papillary renal cell carcinoma in two young adults with glycogen storage disease type IaAriane Perry, Claire Douillard, Frederic Jonca, et al.JIMD Reports|March 11, 2020
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptomsThomas J Langan, Kabir Jalal, Amy L Barczykowski, et al.JIMD Reports|March 11, 2020
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterizationMonica Penon-Portmann, Stephanie Lotz-Esquivel, Alejandra Chavez Carrera, et al.JIMD Reports|March 11, 2020
Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individualsAnna Bozano, Alessandra Schiaffino, Alessandra Spessa, et al.Pageof 127