Literature DB >> 16601892

Neuropsychometric outcome predictors for adults with maple syrup urine disease.

C le Roux1, E Murphy, P Hallam, M Lilburn, D Orlowska, P Lee.   

Abstract

We describe 14 adult MSUD patients (3 with intermediate MSUD) with varied clinical and neuropsychometric outcomes. Age at diagnosis appears to be a predictor of IQ even in adults, while long-term blood leucine does not correlate with IQ.

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 16601892     DOI： 10.1007/s10545-006-0223-1

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


  6 in total

1.  Developmental profile of patients with maple syrup urine disease.

Authors:  A Nord; W J van Doorninck; C Greene
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  The management and long term outcome of organic acidaemias.

Authors:  J V Leonard; P Daish; E R Naughten; K Bartlett
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).

Authors:  R Rousson; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease.

Authors:  S Schönberger; B Schweiger; B Schwahn; M Schwarz; U Wendel
Journal:  Mol Genet Metab       Date:  2004-05       Impact factor: 4.797

5.  Intellectual performance of children with maple syrup urine disease.

Authors:  C Hilliges; D Awiszus; U Wendel
Journal:  Eur J Pediatr       Date:  1993-02       Impact factor: 3.183

6.  Outcome of maple syrup urine disease.

Authors:  E R Naughten; J Jenkins; D E Francis; J V Leonard
Journal:  Arch Dis Child       Date:  1982-12       Impact factor: 3.791
  6 in total
  7 in total

1.  Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series.

Authors:  D A Shellmer; A DeVito Dabbs; M A Dew; R B Noll; H Feldman; K A Strauss; D H Morton; J Vockley; G V Mazariegos
Journal:  Pediatr Transplant       Date:  2010-10-08

2.  Serum Markers of Neurodegeneration in Maple Syrup Urine Disease.

Authors:  Giselli Scaini; Tássia Tonon; Carolina F Moura de Souza; Patricia F Schuk; Gustavo C Ferreira; Joao Seda Neto; Tatiana Amorin; Ida Vanessa D Schwartz; Emilio L Streck
Journal:  Mol Neurobiol       Date:  2016-09-22       Impact factor: 5.590

Review 3.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

4.  Movement disorders in adult surviving patients with maple syrup urine disease.

Authors:  Miryam Carecchio; Susanne A Schneider; Heidi Chan; Robin Lachmann; Philip J Lee; Elaine Murphy; Kailash P Bhatia
Journal:  Mov Disord       Date:  2011-04-11       Impact factor: 10.338

5.  Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study.

Authors:  Alexandre Fabre; Karine Baumstarck; Aline Cano; Anderson Loundou; Julie Berbis; Brigitte Chabrol; Pascal Auquier
Journal:  Health Qual Life Outcomes       Date:  2013-09-19       Impact factor: 3.186

6.  Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features.

Authors:  Mary Anne D Chiong; Marilyn A Tan; Cynthia P Cordero; Esphie Grace D Fodra; Judy S Manliguis; Cristine P Lopez; Leslie Michelle M Dalmacio
Journal:  Mol Genet Metab Rep       Date:  2016-10-12

7.  Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease.

Authors:  Kara R Vogel; Erland Arning; Brandi L Wasek; Sterling McPherson; Teodoro Bottiglieri; K Michael Gibson
Journal:  Orphanet J Rare Dis       Date:  2014-05-08       Impact factor: 4.123
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.