Literature DB >> 10896282

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment.

A B Burlina1, L Bonafé, V Ferrari, A Suppiej, F Zacchello, A P Burlina.   

Abstract

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Year:  2000        PMID： 10896282     DOI： 10.1023/a:1005694122277

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  N-acetylaspartylglutamate in Canavan disease: an adverse effector?

Authors:  A P Burlina; V Ferrari; P Divry; W Gradowska; C Jakobs; M J Bennett; A C Sewell; C Dionisi-Vici; A B Burlina
Journal:  Eur J Pediatr       Date:  1999-05       Impact factor: 3.183

2.  Biochemical hallmarks of tyrosine hydroxylase deficiency.

Authors:  C Bräutigam; R A Wevers; R J Jansen; J A Smeitink; J F de Rijk-van Andel; F J Gabreëls; G F Hoffmann
Journal:  Clin Chem       Date:  1998-09       Impact factor: 8.327

3.  Differential distribution of NAA and NAAG in human brain as determined by quantitative localized proton MRS.

Authors:  P J Pouwels; J Frahm
Journal:  NMR Biomed       Date:  1997-04       Impact factor: 4.044

4.  Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria.

Authors: 
Journal:  Arch Dis Child       Date:  1993-03       Impact factor: 3.791

5.  Neurological outcome in adult patients with early-treated phenylketonuria.

Authors:  J Pietz; R Dunckelmann; A Rupp; D Rating; H M Meinck; H Schmidt; H J Bremer
Journal:  Eur J Pediatr       Date:  1998-10       Impact factor: 3.183

6.  Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

Authors:  P Burgard; H J Bremer; P Bührdel; P C Clemens; E Mönch; H Przyrembel; F K Trefz; K Ullrich
Journal:  Eur J Pediatr       Date:  1999-01       Impact factor: 3.183
  6 in total
  30 in total

1.  Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.

Authors:  Denise M Ney; Sangita G Murali; Bridget M Stroup; Nivedita Nair; Emily A Sawin; Fran Rohr; Harvey L Levy
Journal:  Mol Genet Metab       Date:  2017-04-06       Impact factor: 4.797

2.  Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment.

Authors:  A Ormazabal; M A Vilaseca; B Pérez-Dueñas; N Lambruschini; L Gómez; J Campistol; R Artuch
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Characterization of tremor in phenylketonuric patients.

Authors:  Belén Pérez-Dueñas; Josep Valls-Solé; Emilio Fernández-Alvarez; Jaon Conill; Maria Antonio Vilaseca; Rafael Artuch; Jaume Campistol
Journal:  J Neurol       Date:  2005-07-05       Impact factor: 4.849

4.  Parkinsonism in phenylketonuria: a consequence of dopamine depletion?

Authors:  Marieke Velema; Erik Boot; Marc Engelen; Carla Hollak
Journal:  JIMD Rep       Date:  2015-01-23

5.  Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression.

Authors:  Kevin M Antshel; Susan E Waisbren
Journal:  J Abnorm Child Psychol       Date:  2003-12

Review 6.  Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.

Authors:  Dominic J Gessler; Guangping Gao
Journal:  Methods Mol Biol       Date:  2016

Review 7.  Large neutral amino acids in the treatment of PKU: from theory to practice.

Authors:  Francjan J van Spronsen; Martijn J de Groot; Marieke Hoeksma; Dirk-Jan Reijngoud; Margreet van Rijn
Journal:  J Inherit Metab Dis       Date:  2010-10-26       Impact factor: 4.982

8.  Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria.

Authors:  Renzo Manara; Alessandro P Burlina; Valentina Citton; Mario Ermani; Francesco Vespignani; Carla Carollo; Alberto B Burlina
Journal:  Neuroradiology       Date:  2009-08-04       Impact factor: 2.804

Review 9.  Large neutral amino acids supplementation in phenylketonuric patients.

Authors:  J C Rocha; F Martel
Journal:  J Inherit Metab Dis       Date:  2009-05-13       Impact factor: 4.982

Review 10.  Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?

Authors:  F J van Spronsen; Marieke Hoeksma; Dirk-Jan Reijngoud
Journal:  J Inherit Metab Dis       Date:  2009-01-13       Impact factor: 4.982
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