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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(10)
Elsevier电子期刊(13)
在“
Elsevier电子期刊
”中,
命中:
13
条,耗时:小于0.01 秒
在所有数据库中总计命中:
24
条
1.
Pompe's disease: muscle MRI is an affordable tool to monitor the clinical evolution
作者:
Agata
Fiumara
;
Dora Castiglione
;
Giuliana Del Campo
;
Viviana Brafa Musicoro
;
Giovanni Sorge
;
Stefano Palmucci
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
2.
Hurler disease (MPS IH): Evidence for the need of increased awareness by caring non-metabolic physicians
作者:
Agata
Fiumara
;
Agata
Fiumara
;
Giovanni Sorge
;
Giuliana Del Campo
;
Cristina Trigilia
;
Rita Barone
刊名:Molecular Genetics and Metabolism
出版年:2013
3.
Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C
作者:
Maja Di Rocco
;
MD
a
;
majadirocco@ospedale-gaslini.ge.it
;
Andrea Dardis
;
PhD
b
;
Annalisa Madeo
;
MD
a
;
Rita Barone
;
MD
c
;
Agata
Fiumara
;
MD
c
刊名:Pediatric Neurology
出版年:2012
4.
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
作者:
Sarah B. Pierce
;
Tom Walsh
;
Karen M. Chisholm
;
Ming K. Lee
;
Anne M. Thornton
;
Agata
Fiumara
;
John M. Opitz
;
Ephrat Levy-Lahad
;
Rachel E. Klevit
;
Mary-Claire King
刊名:The American Journal of Human Genetics
出版年:2010
5.
13. Enzyme replacement therapy with Alglucosidase alfa in juvenile-adult glycogenosis type 2 patients
作者:
Bruno Bembi
;
Sabrina Ravaglia
;
Federica Edith Pisa
;
Giovanni Ciana
;
Agata
Fiumara
;
Marco Confalonieri
;
Rossella Parini
;
Miriam Rigoldi
;
Arrigo Moglia
;
Alfredo Costa
;
Cesare Danesino
;
Maria Gabriela Pi
刊名:Molecular Genetics and Metabolism
出版年:2009
6.
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: Identification of three novel mutations of the FM03 gene
作者:
Esposito Teresa
;
Fortunato Lonardo
;
Agata
Fiumara
;
Cinzia Lombardi
;
Paola Russo
;
Cecilia Zuppi
;
Gioacchino Scarano
;
Salvatore Musumeci and Fernando Gianfrancesco
关键词:
Trimethylaminuria
;
Fish-odor syndrome
;
Trimethylamine
;
FMO3
gene
;
Mutation
刊名:Molecular Genetics and Metabolism
出版年:2006
7.
Startle epilepsy complicating aspartylglucosaminuria
作者:
Labate
;
Angelo
;
Barone
;
Rita
;
Gambardella
;
Antonio
;
Civitelli
;
Donata
;
Fiumara
;
Agata
;
Annesi
;
Grazia
;
et. al.
关键词:
Startle disease
;
Reflex epilepsy
;
Aspartylglucosaminuria
刊名:Brain and Development
出版年:2004
8.
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI
作者:
Barone
;
Rita
;
Parano
;
Enrico
;
Trifiletti
;
Rosario Rich
;
Fiumara
;
Agata
;
Pavone
;
Piero
关键词:
White matter changes
;
Leukodystrophy
;
Mucopolysaccharidosis
刊名:Journal of the Neurological Sciences
出版年:2002
9.
Extraneurologic symptoms as presenting signs of Sanfilippo disease
作者:
Barone
;
Rita
;
Fiumara
;
Agata
;
Villani
;
Guglielmo R.D.
;
Di Natale
;
Paola
;
Pavone
;
Lorenzo
刊名:Pediatric Neurology
出版年:2001
10.
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
作者:
Barone
;
Rita
;
Pavone
;
Lorenzo
;
Fiumara
;
Agata
;
Bianchini
;
Rio
;
Jaeken
;
Jaak
关键词:
Carbohydrate-deficient
;
Glycoconjugate syndrome
;
Phosphomannomutase deficiency
;
Neuropsychological assessment
刊名:Brain and Development
出版年:1999
1
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2000年及以前(4)
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