Literature DB >> 6820423

Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.

M Duran, L Bruinvis, D Ketting, S K Wadman, B C van Pelt, A M Batenburg-Plenter.   

Abstract

Isovaleric acidaemia was diagnosed in a 9-year-old girl with an unusual clinical presentation. She was severely mentally retarded, had an extreme growth retardation, bilateral cataracts, multiple fractures of the long bones, vitium cordis and malformations of the head. Frequent infections occurred since early childhood. The relevance of these findings is discussed.

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Year:  1982        PMID： 6820423     DOI： 10.1007/bf01800006

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


  9 in total

1.  Heterogeneity of Chondrodysplasia punctata.

Authors:  J W Spranger; J M Opitz; U Bidder
Journal:  Humangenetik       Date:  1971

2.  Glycine in acute management of isovalericacidaemia.

Authors:  A Velazquez; E C Prieto
Journal:  Lancet       Date:  1980-02-09       Impact factor: 79.321

3.  Gas chromatography of urinary N-phenylacetylglutamine.

Authors:  J P Kamerling; M Brouwer; D Ketting; S K Wadman
Journal:  J Chromatogr       Date:  1979-10-11

4.  Isovaleric acidemia: use of glycine therapy in neonates.

Authors:  R M Cohn; M Yudkoff; R Rothman; S Segal
Journal:  N Engl J Med       Date:  1978-11-02       Impact factor: 91.245

5.  Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.

Authors:  M Duran; F J van Sprang; J G Drewes; L Bruinvis; D Ketting; S K Wadman
Journal:  Eur J Pediatr       Date:  1979-06-28       Impact factor: 3.183

6.  [Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)].

Authors:  W Lehnert; W Schenck; H Niederhoff
Journal:  Klin Padiatr       Date:  1979-09       Impact factor: 1.349

7.  New metabolites in isovaleric acidemia.

Authors:  R J Truscott; D Malegan; E McCairns; D Burke; L Hick; P Sims; B Halpern; K Tanaka; L Sweetman; W L Nyhan; J Hammond; C Bumack; E A Haan; D M Danks
Journal:  Clin Chim Acta       Date:  1981-03-05       Impact factor: 3.786

8.  Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.

Authors:  G Dusheiko; M C Kew; B I Joffe; J R Lewin; S Mantagos; K Tanaka
Journal:  N Engl J Med       Date:  1979-12-27       Impact factor: 91.245

9.  Hypocalcemic cataract.

Authors:  R Stein; V Godel
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1980 May-Jun       Impact factor: 1.402
  9 in total
  2 in total

1.  Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Authors:  M Dercksen; M Duran; L Ijlst; L J Mienie; C J Reinecke; J P N Ruiter; H R Waterham; R J A Wanders
Journal:  J Inherit Metab Dis       Date:  2012-02-17       Impact factor: 4.982

2.  Dietary practices in isovaleric acidemia: A European survey.

Authors:  A Pinto; A Daly; S Evans; M F Almeida; M Assoun; A Belanger-Quintana; S Bernabei; S Bollhalder; D Cassiman; H Champion; H Chan; J Dalmau; F de Boer; C de Laet; A de Meyer; A Desloovere; A Dianin; M Dixon; K Dokoupil; S Dubois; F Eyskens; A Faria; I Fasan; E Favre; F Feillet; A Fekete; G Gallo; C Gingell; J Gribben; K Kaalund-Hansen; N Horst; C Jankowski; R Janssen-Regelink; I Jones; C Jouault; G E Kahrs; I L Kok; A Kowalik; C Laguerre; S Le Verge; R Lilje; C Maddalon; D Mayr; U Meyer; A Micciche; M Robert; J C Rocha; H Rogozinski; C Rohde; K Ross; I Saruggia; A Schlune; K Singleton; E Sjoqvist; L H Stolen; A Terry; C Timmer; L Tomlinson; A Tooke; K Vande Kerckhove; E van Dam; T van den Hurk; L van der Ploeg; M van Driessche; M van Rijn; A van Teeffelen-Heithoff; A van Wegberg; C Vasconcelos; H Vestergaard; I Vitoria; D Webster; F J White; L White; H Zweers; A MacDonald
Journal:  Mol Genet Metab Rep       Date:  2017-02-27
  2 in total

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