Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria-Reference-Cited by-同舟云学术

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Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria

Published:2000-09 Issue:6 Volume:23 Page:563-570
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Leuzzi V.¹,Bianchi M. C.²,Tosetti M.³,Carducci Cl.⁴,Carducci Ca.⁴,Antonozzi I.⁴

Affiliation:

1. ; Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età Evolutiva; Università ‘La Sapienza’; Rome

2. ; U.O. Neuroradiologia Ospedale S. Chiara; Pisa

3. IRCCS ‘Stella Maris’; Pisa

4. ; Dipartimento di Medicina Sperimentale.; Università ‘La Sapienza’; Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005621727560/fullpdf

Reference17 articles.

1. Proton NMR observation of phenylalanine and aromatic metabolite in the rabbit brain in vivo;Avision;Pediatr Res,1990

2. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997;Burgard;Eur J Pediatr,1999

3. Hyperphenylalaninemia. Diagnosis and classi¢cation of the various types of phenylalanine hydroxylase;GÏttler;Acta Paediatr Suppl.,1980

4. Atypical phenylketonuria with borderline or normal intelligence;Hsia;Am J Dis Child,1968

5. Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuria;Knudsen;J Inherit Metab Dis,1995

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1. Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients;Molecular Genetics and Metabolism;2024-05

2. Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review;Journal of Neurology;2023-05-10

3. Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion;Journal of Neurology;2023-04-20

4. High phenylalanine concentrations induce demyelination and microglial activation in mouse cerebellar organotypic slices;Frontiers in Neuroscience;2022-09-29

5. Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse;Molecular Genetics and Metabolism;2021-11

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