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JIMD Reports|November 6, 2023
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, et al.
JIMD Reports|November 6, 2023
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature reviewAngela Lee, Renatta Knox, Margaret Reynolds, et al.
JIMD Reports|November 6, 2023
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devicesRachel S Carling, Zoe Barclay, Nathan Cantley, et al.
JIMD Reports|November 6, 2023
No evidence for systemic low-grade inflammation in adult patients with early-treated phenylketonuria: The INGRAPH studyChloé Giret, Yann Dos Santos, Hélène Blasco, et al.
JIMD Reports|November 6, 2023
A case of hyperlysinemia identified by urine newborn screeningMehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, et al.
JIMD Reports|September 13, 2023
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiencyParith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, et al.
JIMD Reports|September 13, 2023
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapyDavid G Jackson, Rebecca L Koch, Surekha Pendyal, et al.
JIMD Reports|July 5, 2023
Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac deathPrapti Singh, Deirdre Amaro, Olugbemisola Obi, et al.
JIMD Reports|February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter diseaseCarolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
JIMD Reports|February 20, 2020
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming beltHava Peretz, Michael Korostishevsky, David M Steinberg, et al.
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