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A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.
Carreau C, Lenglet T, Mosnier I, Lahlou G, Fargeot G, Weiss N, Demeret S, Salachas F, Veauville-Merllié A, Acquaviva C, Nadjar Y. Carreau C, et al. Ann Clin Transl Neurol. 2020 Feb;7(2):250-253. doi: 10.1002/acn3.50977. Epub 2020 Feb 5. Ann Clin Transl Neurol. 2020. PMID: 32022482 Free PMC article.
Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. As RTD probably has a larger phenotypic spectrum than expected, a high dose riboflavin trial
Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement unde …
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Wallace SE, et al. Am J Med Genet A. 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. Am J Med Genet A. 2004. PMID: 15326622
Progressive diaphyseal dysplasia (PDD) (Camurati-Engelmann disease) is an autosomal dominant craniotubular dysplasia characterized by hyperostosis and sclerosis of the diaphyses of the long bones and the skull. ...This pedigree demonstrates the autosom
Progressive diaphyseal dysplasia (PDD) (Camurati-Engelmann disease) is an autosomal dominant craniotubular dysplasia character