Family Exhibiting Cerebellar-Like Ataxia, Photosensitivity and Shortness of Stature - a New Inborn Error of Tryptophan Metabolism | Zendy

David A. Fenton | Zendy; John Wilkinson | Zendy; P. A. Toseland | Zendy

Open Access

Family Exhibiting Cerebellar-Like Ataxia, Photosensitivity and Shortness of Stature - a New Inborn Error of Tryptophan Metabolism

Author(s) -

David A. Fenton,

John Wilkinson,

P. A. Toseland

Publication year - 1983

Publication title -

journal of the royal society of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.38

H-Index - 81

eISSN - 1758-1095

pISSN - 0141-0768

DOI - 10.1177/014107688307600906

Subject(s) - short stature , inborn error of metabolism , ataxia , cerebellar ataxia , medicine , photosensitivity , tryptophan , endocrinology , pediatrics , genetics , biology , psychiatry , amino acid , physics , quantum mechanics

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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