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JIMD Reports|July 13, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populationsIsaac Bernhardt, Emma Glamuzina, Leah K Dowsett, et al.
JIMD Reports|June 27, 2019
Long-term outcomes in a 25-year-old female affected with lipin-1 deficiencyKarolina M Stepien, Wolfgang M Schmidt, Reginald E Bittner, et al.
JIMD Reports|June 27, 2019
Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature reviewNicole Williams, Jake Willet, Damian Clark, et al.
JIMD Reports|June 27, 2019
Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiencyMorteza Alijanpour, Hideo Sasai, Elsayed Abdelkreem, et al.
JIMD Reports|June 27, 2019
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literatureBernice Ho, Jennifer MacKenzie, Jagdeep Walia, et al.
JIMD Reports|June 27, 2019
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature reviewCatherine Goudie, Abdulfatah M Alayoubi, Pauline Tibout, et al.
JIMD Reports|June 27, 2019
Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levelsAnne Clark, Christine Merrigan, Ellen Crushell, et al.
JIMD Reports|June 27, 2019
Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of IrelandJohn Allen, Bronwyn Power, Aida Abedin, et al.
JIMD Reports|March 14, 2022
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and geneticsDavid Olsson, Michela Barbaro, Charlotte Haglind, et al.
JIMD Reports|March 14, 2022
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disordersMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.
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