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Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.
J Pediatr. 2018 Jun;197:198-206.e2. doi: 10.1016/j.jpeds.2018.01.044. Epub 2018 Apr 13.
J Pediatr. 2018.
PMID: 29661560
Free article.
Clinical Trial.
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP.
McGovern MM, et al. Among authors: eugen mengel k.
Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13.
Genet Med. 2017.
PMID: 28406489
Free PMC article.
Review.
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