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1 . Academic Journal
Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?
저자
by
Maja Di Rocco
;
Alessio Di Fonzo
;
Antonio Barbato
;
Maria Domenica Cappellini
;
Francesca Carubbi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-6 (2020)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
Respiratory manifestations in patients with inherited metabolic diseases
저자
by
Francesca Santamaria
;
Silvia Montella
;
Virginia Mirra
;
Sara De Stefano
;
Generoso Andria
, et al.
소스
European Respiratory Review, Vol 22, Iss 130, Pp 437-453 (2013)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Homocysteine Lowering by Folate-Rich Diet or Pharmacological Supplementations in Subjects with Moderate Hyperhomocysteinemia
저자
by
Lorenza Mistura
;
Aida Turrini
;
Iris Scala
;
Orazio Genovese
;
Roberta Ricci
, et al.
소스
Nutrients, Vol 5, Iss 5, Pp 1531-1543 (2013)
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7 . Academic Journal
Diagnosis and management of lysosomal storage disorders. Three key words: early, multidisciplinary, and network
저자
by
Generoso Andria
;
Giuseppe Limongelli
.
소스
Cardiogenetics, Vol 3, Iss 1S, Pp e1-e1 (2013)
Open Access (DOAJ)
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4 . Academic Journal
Molecular basis and clinical management of Pompe disease
저자
by
Giancarlo Parenti
;
Giuseppe Di Iorio
;
Simone Sampaolo
;
Giuseppe Fiorentino
;
Vincenzo Farina
, et al.
소스
Cardiogenetics, Vol 3, Iss 1S, Pp e5-e5 (2013)
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7 .
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI
저자
by
Nicola Brunetti-Pierri
;
Rita Ferla
;
Virginia Maria Ginocchio
;
Alessandro Rossi
;
Simona Fecarotta
, et al.
소스
NEJM Evidence
. 1
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7 .
Parkinson's disease in Gaucher disease patients: What's changing in the counseling and management of patients and their relatives?
저자
by
Marco Spada
;
Fiorina Giona
;
Francesca Carubbi
;
Generoso Andria
;
Antonella Quarta
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-6 (2020)
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7 .
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
저자
by
François Maillot
;
Philip Mayne
;
Siobhan O’Sullivan
;
Martina Huemer
;
Helene Ogier
, et al.
소스
Journal of Inherited Metabolic Disease, 40, 1, pp. 49-74
Journal of Inherited Metabolic Disease, 40, 49-74
Journal of Inherited Metabolic Disease
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7 . Academic Journal
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
저자
by
Massimiliano Rossi
;
Daniele De Brasi
;
Christine M Hall
;
Antonella Battagliese
;
Daniela Melis
, et al.
소스
Clinical Dysmorphology; Jan2005, Vol. 14 Issue 1, p13-18, 6p
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7 .
Inborn Errors of Metabolism and Newborns
저자
by
Nicola Brunetti-Pierri
;
Giancarlo Parenti
;
Generoso Andria
.
소스
Neonatology ISBN: 9783319181592
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