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JIMD Reports|July 13, 2022
Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patientsMohammad S Z Ahmad, Mahmoud Ahmed, Milad Khedr, et al.
JIMD Reports|July 13, 2022
Method development and validation for analysis of phenylalanine, 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid in serum and urineAndrew T Hughes, Anna M Milan, Ella Shweihdi, et al.
JIMD Reports|July 13, 2022
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiencyAshley Hertzog, Arthavan Selvanathan, Rebecca Halligan, et al.
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.
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