Literature DB >> 25359260

Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism.

Francesca Rosini1, Alessandra Rufa, Lucia Monti, Letizia Tirelli, Antonio Federico.   

Abstract

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Year:  2014        PMID： 25359260     DOI： 10.1007/s00415-014-7492-7

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

1.  Neurological deterioration in adult phenylketonuria.

Authors:  J Weglage; C Oberwittler; T Marquardt; J Schellscheidt; A von Teeffelen-Heithoff; G Koch; H Gerding
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

2.  Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood.

Authors:  Guillemette Jousserand; Jean-Christophe Antoine; Jean-Philippe Camdessanché
Journal:  J Neurol       Date:  2009-10-28       Impact factor: 4.849

3.  In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations.

Authors:  J Weglage; H E Möller; D Wiedermann; S Cipcic-Schmidt; J Zschocke; K Ullrich
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

4.  Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.

Authors:  S Kasim; L R Moo; J Zschocke; H A Jinnah
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-12       Impact factor: 10.154

5.  Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment.

Authors:  J Pietz; R Kreis; H Schmidt; U K Meyding-Lamadé; A Rupp; C Boesch
Journal:  Radiology       Date:  1996-11       Impact factor: 11.105

Review 6.  White matter pathology in phenylketonuria.

Authors:  Peter J Anderson; Vincenzo Leuzzi
Journal:  Mol Genet Metab       Date:  2010       Impact factor: 4.797

7.  [Phenylketonuria with adult-onset neurological manifestation].

Authors:  K Ishimaru; N Tamasawa; M Baba; M Matsunaga; K Takebe
Journal:  Rinsho Shinkeigaku       Date:  1993-09

8.  Delayed diagnosis of phenylketonuria - a case report of two siblings.

Authors:  Deepa Narayanan; Robert Barski; Mick J Henderson; Ahai Luvai; Deepak Chandrajay; Collette Stainforth; Jacqueline Bradley; Hazel Rogozinski; Reena Sharma
Journal:  Ann Clin Biochem       Date:  2013-10-04       Impact factor: 2.057

9.  Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria.

Authors:  J Weglage; D Wiedermann; J Denecke; R Feldmann; H G Koch; K Ullrich; H E Möller
Journal:  J Inherit Metab Dis       Date:  2002-10       Impact factor: 4.982

10.  Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change.

Authors:  M A Cleary; J H Walter; J E Wraith; F White; K Tyler; J P Jenkins
Journal:  J Pediatr       Date:  1995-08       Impact factor: 4.406
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  4 in total

Review 1.  Genetic etiology and clinical challenges of phenylketonuria.

Authors:  Nasser A Elhawary; Imad A AlJahdali; Iman S Abumansour; Ezzeldin N Elhawary; Nagwa Gaboon; Mohammed Dandini; Abdulelah Madkhali; Wafaa Alosaimi; Abdulmajeed Alzahrani; Fawzia Aljohani; Ehab M Melibary; Osama A Kensara
Journal:  Hum Genomics       Date:  2022-07-19       Impact factor: 6.481

Review 2.  The complete European guidelines on phenylketonuria: diagnosis and treatment.

Authors:  A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2017-10-12       Impact factor: 4.123

Review 3.  Phenylketonuria.

Authors:  Francjan J van Spronsen; Nenad Blau; Cary Harding; Alberto Burlina; Nicola Longo; Annet M Bosch
Journal:  Nat Rev Dis Primers       Date:  2021-05-20       Impact factor: 52.329

4.  Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review.

Authors:  Shuna Chen; Mingqin Zhu; Yulei Hao; Jiachun Feng; Ying Zhang
Journal:  Front Neurol       Date:  2019-10-04       Impact factor: 4.003
  4 in total

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