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Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.
Arch Neurol. 2011 May;68(5):615-21. doi: 10.1001/archneurol.2011.80.
Arch Neurol. 2011.
PMID: 21555636
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
Pérez-Poyato MS, Marfa MP, Abizanda IF, Rodriguez-Revenga L, Sánchez VC, González MJ, Puñal JE, Pérez AV, González MM, Bermejo AM, Hernández EM, Rosell MJ, Gort L, Milá M.
Pérez-Poyato MS, et al. Among authors: marfa mp.
J Child Neurol. 2013 Apr;28(4):470-8. doi: 10.1177/0883073812448459. Epub 2012 Jul 25.
J Child Neurol. 2013.
PMID: 22832778
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Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.
Pérez-Poyato MS, Gordo MM, Marfa MP.
Pérez-Poyato MS, et al. Among authors: marfa mp.
Gene. 2012 Sep 10;506(1):207-10. doi: 10.1016/j.gene.2012.06.054. Epub 2012 Jun 28.
Gene. 2012.
PMID: 22750297
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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T.
Bolton SC, et al. Among authors: marfa mp.
Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4.
Orphanet J Rare Dis. 2022.
PMID: 35164809
Free PMC article.
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Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR).
Geberhiwot T, et al. Among authors: marfa mp.
Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7.
Orphanet J Rare Dis. 2018.
PMID: 29625568
Free PMC article.
Review.
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Incontinentia pigmenti: a report of ten cases.
Vicente-Villa A, Lamas JV, Pascual AM, Cuesta DL, Marfa MP, González-Enseñat MA.
Vicente-Villa A, et al. Among authors: marfa mp.
Eur J Pediatr. 2001 Jan;160(1):64-5. doi: 10.1007/s004310000589.
Eur J Pediatr. 2001.
PMID: 11195025
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