Literature DB >> 6620277

Family exhibiting cerebellar-like ataxia, photosensitivity and shortness of stature - a new inborn error of tryptophan metabolism.

D A Fenton, J D Wilkinson, P A Toseland.   

Abstract

Two cases in a brother and sister of a previously undescribed hereditary syndrome are reported. The features, which include shortness of stature, photosensitivity and cerebellar-like ataxia, are attributed to a new inborn error of tryptophan metabolism.

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Year:  1983        PMID： 6620277      PMCID： PMC1439397          DOI： 10.1177/014107688307600906

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   18.000


  4 in total

1.  CONGENITAL TRYPTOPHANURIA WITH DWARFISM ("H" DISEASE-LIKE CLINICAL FEATURES WITHOUT INDICANURIA AND GENERALIZED AMINOACIDURIA):--A PROBABLY NEW INBORN ERROR OF TRYPTOPHAN METABOLISM.

Authors:  K TADA; H ITO; Y WADA; T ARAKAWA
Journal:  Tohoku J Exp Med       Date:  1963-07-25       Impact factor: 1.848

2.  Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.

Authors:  D N BARON; C E DENT; H HARRIS; E W HART; J B JEPSON
Journal:  Lancet       Date:  1956-09-01       Impact factor: 79.321

3.  The syndrome of congenital telangiectatic erythema and stunted growth.

Authors:  D Bloom
Journal:  J Pediatr       Date:  1966-01       Impact factor: 4.406

4.  Poikiloderma congenitale; Rothmund-Thomson syndrome.

Authors:  A ROOK; R DAVIS; D STEVANOVIC
Journal:  Acta Derm Venereol       Date:  1959       Impact factor: 4.437
  4 in total
  3 in total

1.  Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria.

Authors:  R Cheminal; B Echenne; H Bellet; M Duran
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Tryptophan administration induces oxidative stress in brain cortex of rats.

Authors:  Luciane Rosa Feksa; Alexandra Latini; Virgínia Cielo Rech; Patrícia Bartels Feksa; Gustavo Duarte Waltereith Koch; Maria Fernanda Arevalo Amaral; Guilhian Leipnitz; Carlos Severo Dutra-Filho; Moacir Wajner; Clóvis Milton Duval Wannmacher
Journal:  Metab Brain Dis       Date:  2008-04-19       Impact factor: 3.584

3.  Pellagra with colitis due to a defect in tryptophan metabolism.

Authors:  P T Clayton; N A Bridges; D J Atherton; P J Milla; M Malone; D A Bender
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183
  3 in total

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