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Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Clin Dysmorphol. 2024 Jan 1;33(1):1-8. doi: 10.1097/MCD.0000000000000474. Epub 2023 Nov 23.
Clin Dysmorphol. 2024.
PMID: 37791705
Free PMC article.
Alpha-mannosidosis (MIM #248500) is an ultra-rare autosomal recessive lysosomal storage disease with multi-system involvement and a wide phenotypic spectrum. Information on long-term outcomes remains poor. We present the long-term outcomes (median, 19 years) of nine …
Alpha-mannosidosis (MIM #248500) is an ultra-rare autosomal recessive lysosomal storage disease with multi-system involvement and a wide phe …
NCL diseases - clinical perspectives.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R.
Schulz A, et al. Among authors: simonati a.
Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
Biochim Biophys Acta. 2013.
PMID: 23602993
Free PMC article.
The characteristics of these symptoms can vary and the age at disease onset ranges from birth to young adulthood. Genetic heterogeneity, with fourteen identified NCL genes and wide phenotypic variability render diagnosis difficult. ...These aspects are challenging because …
The characteristics of these symptoms can vary and the age at disease onset ranges from birth to young adulthood. Genetic heterogenei …
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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group; Rossi A, Valente EM.
Briguglio M, et al.
Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36.
Orphanet J Rare Dis. 2011.
PMID: 21651769
Free PMC article.
Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration …
Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of …
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Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A.
Filosto M, et al. Among authors: simonati a.
Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3.
Biosci Rep. 2007.
PMID: 17541738
Review.
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...
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