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1 . Academic Journal
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis
저자
by
Pittis, M.G.
;
Montalvo, A.L.E.
;
Heikinheimo, P.
;
Sbaragli, M.
;
Balducci, C.
, et al.
소스
In
Clinica Chimica Acta
2007 375(1):136-139
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7 . Academic Journal
Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome
저자
by
Patrono, C.
;
Dionisi-Vici, C.
;
Giannotti, A.
;
Bembi, B.
;
Digilio, M.C.
, et al.
소스
In
Molecular and Cellular Probes
August 2002 16(4):315-318
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7 . Academic Journal
P.358 - Report on nationwide Italian collaborative network for muscle glycogen storage disorders
저자
by
Musumeci, O.
;
Mongini, T.
;
Angelini, C.
;
Bruno, C.
;
Moggio, M.
, et al.
소스
In
Neuromuscular Disorders
October 2017 27 Supplement 2:S204-S204
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7 . Academic Journal
Early identification of type C2 Niemann–Pick disease by urinary bile acid profile determination in a newborn: Potential of tandem mass spectrometry for the differential diagnosis of neonatal cholestasis
저자
by
Curia, G.
;
Cananzi, M.
;
Giordano, G.
;
Burlina, A.
;
Giordano, L.
, et al.
소스
In
Digestive and Liver Disease
30 September 2013 45 Supplement 4:e271-e271
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7 . Book
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
저자
by
Reunert, J.
;
Lotz-Havla, A. S.
;
Polo, G.
;
Kannenberg, F.
;
Fobker, M.
, et al.
소스
JIMD Reports Volume 23; 2015, p17-26, 10p
Find it @ DONGA
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7 . Academic Journal
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.
저자
by
Dardis, A.
;
Zampieri, S.
;
Canterini, S.
;
Newell, K. L.
;
Stuani, C.
, et al.
소스
Acta Neuropathologica Communications
. 5/18/2016, Vol. 4, p1-13. 13p.
Open Access (BioMed Central)
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7 . Academic Journal
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
저자
by
Angelini, C.
;
Semplicini, C.
;
Ravaglia, S.
;
Bembi, B.
;
Servidei, S.
, et al.
소스
Journal of Neurology
. May2012, Vol. 259 Issue 5, p952-958. 7p.
Full Text (Springer)
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7 . Academic Journal
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
저자
by
Wraith, J.E.
;
Guffon, N.
;
Rohrbach, M.
;
Hwu, W.L.
;
Korenke, G.C.
, et al.
소스
Molecular Genetics & Metabolism
. Nov2009, Vol. 98 Issue 3, p250-254. 5p.
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7 . Academic Journal
Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
저자
by
Pineda, M.
;
Wraith, J.E.
;
Mengel, E.
;
Sedel, F.
;
Hwu, W.-L.
, et al.
소스
Molecular Genetics & Metabolism
. Nov2009, Vol. 98 Issue 3, p243-249. 7p.
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7 . Academic Journal
Management of neuronopathic Gaucher disease: Revised recommendations.
저자
by
Vellodi, A.
;
Tylki-Szymanska, A.
;
Davies, E.
;
Kolodny, E.
;
Bembi, B.
, et al.
소스
Journal of Inherited Metabolic Disease; Oct2009, Vol. 32 Issue 5, p660-664, 5p, 3 Charts
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