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1 .
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome
저자
by
Bernhard, Gentner
;
Francesca, Tucci
;
Stefania, Galimberti
;
Francesca, Fumagalli
;
Maurizio, De Pellegrin
, et al.
소스
New England Journal of Medicine
. 385:1929-1940
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7 . Academic Journal
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
저자
by
Musumeci, O
;
la Marca, G
;
Spada, M
;
Mondello, S
;
Danesino, C
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. Jan 01, 2016 87(1):5-11
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7 .
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients
저자
by
S. Feriozzi
;
Amelia Morrone
;
R. Mignani
;
M.L. Della Bona
;
C. L. Cirami
, et al.
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7 .
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases
저자
by
Cianci, P.
;
D'Apolito, V.
;
Moretti, A.
;
Barbagallo, M.
;
Paci, S.
, et al.
소스
Italian Journal of Pediatrics
Open Access (BioMed Central)
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7 . Academic Journal
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
저자
by
Ferri, L
;
Guido, C
;
la Marca, G
;
Malvagia, S
;
Cavicchi, C
, et al.
소스
Clinical Genetics
. Mar 01, 2012 81(3):224-233
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7 . Academic Journal
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
저자
by
Cavicchi, C
;
Donati, M A
;
Funghini, S
;
la Marca, G
;
Malvagia, S
, et al.
소스
Clinical Genetics
. Jan 01, 2006 69(1):72-76
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7 .
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
저자
by
Elena Proncopio
;
Maria Alice Donati
;
Federico Baronio
;
Amelia Morrone
;
Giancarlo la Marca
, et al.
소스
BBA Clinical
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7 .
Serum Levels of Acyl-Carnitines along the Continuum from Normal to Alzheimer's Dementia
저자
by
Adriana Cristofano
;
Gaetano Corso
;
Michela Vitale
;
Claudio Russo
;
Alfonso Di Costanzo
, et al.
소스
PLoS ONE
PLoS ONE, Vol 11, Iss 5, p e0155694 (2016)
Università degli studi di Firenze-IRIS
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7 .
Levels of acyl-carnitines in serum of patient with or at risk of Alzheimer’s disease
저자
by
ANGIOLILLO, Antonella
;
Cristofano, A
;
Sapere, N
;
La Marca, G
;
Vitale, M
, et al.
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7 .
Serum levels of amino acids in subjects with or at risk of Alzheimer's dementia
저자
by
Fratangelo, R
;
Cristofano, A
;
Sapere, N
;
La Marca, G
;
ANGIOLILLO, Antonella
, et al.
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