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Wiley电子期刊(2)
SpringerLink电子期刊(6)
Elsevier电子期刊(24)
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:小于0.01 秒
在所有数据库中总计命中:
32
条
1.
Psychiatric disorders in adolescent and young adult patients with phenylketonuria
作者:
Filippo Manti
a
;
1
;
filippo.manti@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Francesca Nardecchia
a
;
b
;
1
;
francesca.nardecchia@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Flavia Chiarotti
c
;
flavia.chiarotti@iss.it" class="auth_mail" title="E-mail the corresponding author
;
Claudia Carducci
d
;
claudia.carducci@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Carla Carducci
d
;
Vincenzo
Leuzzi
a
;
vincenzo
.
leuzzi
@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
关键词:
ETPKU
;
early treated phenylketonuria
;
IQ
;
intelligence quotient
;
Phe
;
phenylalanine
;
WAIS-R
;
Wechsler Adult Intelligence Scale-Revised
;
IDC
;
Index of Dietary Control
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study
作者:
Mario Mastrangelo
a
;
mario.mastrangelo@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Flavia Chiarotti
b
;
flavia.chiarotti@iss.it" class="auth_mail" title="E-mail the corresponding author
;
Luana Berillo
a
;
luanaberillo@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Caterina Caputi
a
;
caputi.caterina@libero.it" class="auth_mail" title="E-mail the corresponding author
;
Claudia Carducci
c
;
claudia.carducci@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Claudio Di Biasi
d
;
Filippo Manti
a
;
mantifilippo@libero.it" class="auth_mail" title="E-mail the corresponding author
;
Francesca Nardecchia
a
;
e
;
francesca.nardecchia@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Vincenzo
Leuzzi
a
;
vincenzo
.
leuzzi
@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
关键词:
MRI
;
magnetic resonance imaging
;
PKU
;
phenylketonuria
;
WMSS
;
white matter severity score
;
IDC
;
index of dietary control
;
ANOVA
;
one-way analysis of variance
;
ANCOVA
;
analysis of covariance
;
PAH
;
phenylalanine hydroxylase
;
VIF
;
variance inflation factor
;
Phe
;
phenylalanine
刊名:Molecular Genetics and Metabolism
出版年:2015
3.
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
作者:
Sylvia Stockler-Ipsiroglu
;
Clara van Karnebeek
;
Nicola Longo
;
G. Christoph Korenke
;
Saadet Mercimek-Mahmutoglu
;
Iris Marquart
;
Bruce Barshop
;
Christiane Grolik
;
Andrea Schlune
;
Brad Angle
;
Helena Caldeira Ara煤jo
;
Turgay Coskun
;
Luisa Diogo
;
Michael Geraghty
;
Goknur Haliloglu
;
Vassiliki Konstantopoulou
;
Vincenzo
Leuzzi
;
Alina Levtova
;
Jennifer MacKenzie
;
Bruno Mar
a ;
Aizeddin A. Mhanni
;
et al.
关键词:
Creatine deficiency
;
Magnetic resonance spectroscopy
;
Speech delay
;
Autism
;
Treatment evidence
;
Neurodevelopmental outcome
刊名:Molecular Genetics and Metabolism
出版年:January, 2014
4.
SB-PE drift-diffusion algorithm for FET devices global modeling
作者:
Giorgio
Leuzzi
;
Vincenzo
Stornelli
;
vincenzo
.stornelli@univaq.it
关键词:
Drift-diffusion
;
Global modeling
;
Q2D model
;
Physic-based analysis
刊名:Microelectronics Journal
出版年:2013
5.
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review
作者:
Marco Castori
;
Michele Valiante
;
Giulia Pascolini
;
Vincenzo
Leuzzi
;
Antonio Pizzuti
;
Paola Grammatico
关键词:
Gingival overgrowth
;
Hirsutism
;
Hypertrichosis
;
Inheritance
;
Mental retardation
;
Nail dysplasia
刊名:European Journal of Medical Genetics
出版年:2013
6.
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
作者:
Andrea Celato
;
Chiara Mitola
;
Manuela Tolve
;
Maria Teresa Giannini
;
Sabrina De Leo
;
Claudia Carducci
;
Carla Carducci
;
Vincenzo
Leuzzi
关键词:
Malonic aciduria
;
Malonylcarnitine (C3DC)
;
Malonyl-CoA decarboxylase deficiency
;
Methylmalonylcarnitine (C4DC)
;
Organic acidurias
刊名:Brain and Development
出版年:2013
7.
Metabolic epilepsy: An update
作者:
Laura Papetti
;
Pasquale Parisi
;
Vincenzo
Leuzzi
;
Francesca Nardecchia
;
Francesco Nicita
;
Fabiana Ursitti
;
Francesca Marra
;
Maria Chiara Paolino
;
Alberto Spalice
关键词:
Encephalopathy
;
Metabolism
;
Children
;
Genetics
;
Inherited metabolic disorders
;
Metabolic epilepsy
刊名:Brain and Development
出版年:2013
8.
A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies
作者:
Mario Mastrangelo
a
;
Andrea Celato
a
;
Vincenzo
Leuzzi
;
vincenzo
.
leuzzi
@uniroma1.it
关键词:
Early onset epileptic encephalopathies
;
Metabolic epilepsies
;
Genetic epilepsies
;
Children
刊名:European Journal of Paediatric Neurology
出版年:2012
9.
Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype
作者:
Mario Mastrangelo
;
MD
;
Vincenzo
Leuzzi
;
MD
;
vincenzo
.
leuzzi
@uniroma1.it
刊名:Pediatric Neurology
出版年:2012
10.
White matter pathology in phenylketonuria
作者:
Peter J. Anderson
;
Vincenzo
Leuzzi
关键词:
Phenylketonuria
;
White matter abnormality
;
Magnetic resonance imaging
;
Diffusion tensor imaging
;
Neuropsychological functioning
刊名:Molecular Genetics and Metabolism
出版年:2010
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