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JIMD Reports|November 7, 2022
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case reportKatsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, et al.JIMD Reports|November 7, 2022
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study periodElis Tiivoja, Karit Reinson, Kai Muru, et al.JIMD Reports|November 7, 2022
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic reviewChiel J de Bode, Emma J Dogterom, Antoinette V J Rozeboom, et al.JIMD Reports|November 7, 2022
Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two casesTomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, et al.JIMD Reports|November 7, 2022
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophyJonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.JIMD Reports|May 12, 2021
Wanted: A vocabulary for talking about involuntary behaviors associated with Lesch-Nyhan diseaseKenneth L Robey, Daniel C BalboniJIMD Reports|May 12, 2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experienceAyse Ergul Bozaci, Esra Er, Havva Yazici, et al.JIMD Reports|May 12, 2021
The natural history of glycogen storage disease type Ib in England: A multisite surveyRebecca Halligan, Fiona J White, Bernd Schwahn, et al.JIMD Reports|May 12, 2021
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variantsRenuka Pudi Limgala, Vyacheslav Furtak, Margarita M Ivanova, et al.JIMD Reports|May 12, 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?Sandra D K Kingma, Berten Ceulemans, Sandra Kenis, et al.Pageof 127