Literature DB >> 19862469

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

Guillemette Jousserand, Jean-Christophe Antoine, Jean-Philippe Camdessanché.   

Abstract

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Year:  2009        PMID： 19862469     DOI： 10.1007/s00415-009-5358-1

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


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  8 in total

1.  Trimethylaminuria associated with seizures and behavioural disturbance: a case report.

Authors:  H W McConnell; S C Mitchell; R L Smith; M Brewster
Journal:  Seizure       Date:  1997-08       Impact factor: 3.184

2.  The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist.

Authors:  S A Centerwall; W R Centerwall
Journal:  Pediatrics       Date:  2000-01       Impact factor: 7.124

3.  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

Review 4.  [Management of phenylketonuria and hyperphenylalaninemia: the French guidelines].

Authors:  V Abadie; J Berthelot; F Feillet; N Maurin; A Mercier; H Ogier de Baulny; L de Parscau
Journal:  Arch Pediatr       Date:  2005-05       Impact factor: 1.180

Review 5.  Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Authors:  Jerry Vockley; Regina Ensenauer
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908

6.  Stability of blood phenylalanine levels and IQ in children with phenylketonuria.

Authors:  Vera Anastasoaie; Laura Kurzius; Peter Forbes; Susan Waisbren
Journal:  Mol Genet Metab       Date:  2008-08-13       Impact factor: 4.797

7.  Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet.

Authors:  P J Lee; A Amos; L Robertson; B Fitzgerald; R Hoskin; M Lilburn; E Weetch; G Murphy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-02-09       Impact factor: 10.154

8.  Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.

Authors:  Kevin A. Strauss; D. Holmes Morton
Journal:  Curr Treat Options Neurol       Date:  2003-07       Impact factor: 3.972
  8 in total
  6 in total

1.  Neurological improvement following reinstitution of a low phenylalanine diet after 20 years in established phenylketonuria.

Authors:  M S Anwar; B Waddell; J O'Riordan
Journal:  BMJ Case Rep       Date:  2013-07-12

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

Authors:  Francesca Rosini; Alessandra Rufa; Lucia Monti; Letizia Tirelli; Antonio Federico
Journal:  J Neurol       Date:  2014-10-31       Impact factor: 4.849

Review 3.  Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Authors:  Hélio A G Teive; Carlos Henrique F Camargo; Eduardo R Pereira; Léo Coutinho; Renato P Munhoz
Journal:  Neurogenetics       Date:  2022-04-09       Impact factor: 3.017

4.  Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report.

Authors:  Chunchen Wang; Jieying Li
Journal:  Medicine (Baltimore)       Date:  2018-02       Impact factor: 1.889

5.  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

Review 6.  Microbiota and Malodor-Etiology and Management.

Authors:  Izabella Mogilnicka; Pawel Bogucki; Marcin Ufnal
Journal:  Int J Mol Sci       Date:  2020-04-20       Impact factor: 5.923
  6 in total

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