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Quoted phrase not found in phrase index: "Metachromatic leukodystrophy, adult type"
Page 1
A systematic review on the birth prevalence of metachromatic leukodystrophy.
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y. Chang SC, et al. Orphanet J Rare Dis. 2024 Feb 21;19(1):80. doi: 10.1186/s13023-024-03044-w. Orphanet J Rare Dis. 2024. PMID: 38383398 Free PMC article.
BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clinical subtypes are …
BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in ary …
The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.
Chang SC, Eichinger CS, Field P. Chang SC, et al. Eur J Med Res. 2024 Mar 18;29(1):181. doi: 10.1186/s40001-024-01771-1. Eur J Med Res. 2024. PMID: 38494502 Free PMC article. Review.
BACKGROUND: Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. ...METHODS: The Ovid platform was used to search Emb …
BACKGROUND: Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient …
Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS. Mahmood A, et al. J Child Neurol. 2010 May;25(5):572-80. doi: 10.1177/0883073809341669. Epub 2009 Dec 28. J Child Neurol. 2010. PMID: 20038527 Free PMC article. Review.
Metachromatic leukodystrophy is a rare disorder with great clinical variability. ...The 5-year survival of cases reported after 1990 was significantly better than cases reported before 1970 in all subtypes of metachromatic leukodystrophy (late infantil …
Metachromatic leukodystrophy is a rare disorder with great clinical variability. ...The 5-year survival of cases reported afte …
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J, Friede T. Schlotawa L, et al. J Inherit Metab Dis. 2020 Nov;43(6):1288-1297. doi: 10.1002/jimd.12282. Epub 2020 Jul 22. J Inherit Metab Dis. 2020. PMID: 32621519
SUMF1 mutations lead to functionally impaired FGE and individuals with MSD demonstrate clinical signs of single sulfatase deficiencies, including metachromatic leukodystrophy (MLD) and several mucopolysaccharidosis (MPS) subtypes. ...
SUMF1 mutations lead to functionally impaired FGE and individuals with MSD demonstrate clinical signs of single sulfatase deficiencies, incl …
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Adams SJ, Kirk A, Auer RN. Adams SJ, et al. J Clin Neurosci. 2018 Feb;48:42-49. doi: 10.1016/j.jocn.2017.10.060. Epub 2017 Nov 6. J Clin Neurosci. 2018. PMID: 29122458 Review.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ALSP was previously recognized as two distinct entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthoch …
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. …
Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.
Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS. Musolino PL, et al. Neuropediatrics. 2014 Jun;45(3):169-74. doi: 10.1055/s-0033-1364179. Epub 2014 Jan 23. Neuropediatrics. 2014. PMID: 24459069 Free PMC article. Review.
OBJECTIVE: The objective of this study is to systematically review the literature on worldwide numbers of leukodystrophy patients undergoing hematopoietic stem cell transplantation (HSCT) as well as the safety and efficacy of the procedure in this patient population. ...
OBJECTIVE: The objective of this study is to systematically review the literature on worldwide numbers of leukodystrophy patients und …
Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C. Kolevzon A, et al. Mol Autism. 2019 Dec 24;10:50. doi: 10.1186/s13229-019-0291-3. eCollection 2019. Mol Autism. 2019. PMID: 31879555 Free PMC article.
Several individuals had a progressive neurological deterioration, including one with juvenile onset metachromatic leukodystrophy, a severe demyelinating disorder caused by recessive mutations in the ARSA gene in 22q13.33. ...
Several individuals had a progressive neurological deterioration, including one with juvenile onset metachromatic leukodystrophy …