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The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study

Author
LEUZZI, V1 ; TOSETTI, M2 ; POPOLIZIO, T8 ; GIANNATEMPO, G. M8 ; D'ALESIO, V8 ; SCARABINO, T8 9 ; MONTANARO, D3 ; CARDUCCI, C4 ; ARTIOLA, C4 ; CARDUCCI, C4 ; ANTONOZZI, I4 ; BURRONI, M5 ; CARNEVALE, F6 ; CHIAROTTI, F7
[1] Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età Evolutiva, University of Rome 'La Sapienza', Rome, Italy
[2] Istituto Scientifico Stella Maris, Pisa, Italy
[3] Istituto di Fisiologia Clinica CNR-CREAS, Pisa, Italy
[4] Dipartimento di Medicina Sperimentale e Patologia, University of Rome 'La Sapienza', Rome, Italy
[5] Unità di Neuropsichiatria Infantile, Fano, Italy
[6] Divisione Malattie Metaboliche e Genetica Clinica, Ospedale Pediatrico Giovanni XXIII, Bari, Italy
[7] Istituto Superiore di Sanità, Rome, Italy
[8] Dipartimento di Neuroradiologia, Istituto Scientifico 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy
[9] Radiologia, AUSL BA/1, Ospedale di Andria, Bari, Italy
Source

Journal of inherited metabolic disease. 2007, Vol 30, Num 2, pp 209-216, 8 p ; ref : 1 p.1/4

CODEN
JIMDDP
ISSN
0141-8955
Scientific domain
Genetics; Nutrition, obesity, metabolic disorders
Publisher
Springer, Dordrecht
Publication country
Netherlands
Document type
Article
Language
English
Keyword (fr)
Anomalie Génétique Imagerie RMN Maladie héréditaire Métabolisme pathologie Nutrition Pathogénie Phénylcétonurie Spectrométrie RMN Substance blanche Aminoacidopathie Enzymopathie Imagerie médicale Système nerveux pathologie
Keyword (en)
Anomaly Genetics Nuclear magnetic resonance imaging Genetic disease Metabolic diseases Nutrition Pathogenesis Phenylketonuria NMR spectrometry White matter Aminoacid disorder Enzymopathy Medical imagery Nervous system diseases
Keyword (es)
Anomalía Genética Imaginería RMN Enfermedad hereditaria Metabolismo patología Nutrición Patogenia Fenilcetonuria Espectrometría RMN Substancia blanca Aminoacido alteración Enzimopatía Imaginería médica Sistema nervioso patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics

Discipline
Medical genetics Metabolic diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
18831279

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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