Search | Global Index Medicus

Goldenhar syndrome and hereditary typrosinemia type 1

Moeen A., Al Sayed; Ali M., Al Asmari; Mohammed S., Rashed.

Neurosciences. 2003; 8 (1): 55-59

in English | IMEMR | ID: emr-63975

ABSTRACT

We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 [HTT1], to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-[2-nitro-4-trifluoromethyl benzoyl]-1,3-cyclohexanedione in the treatment of HTT1

Subject(s)

Humans , Female , Tyrosinemias/diagnosis , 4-Hydroxyphenylpyruvate Dioxygenase , Amino Acid Metabolism, Inborn Errors , Goldenhar Syndrome/etiology

Tirosinemia: estudio familiar / Tyrosinaemia: a family study

Soto Villasante, Gilberto; Gomez Rojo, Melba.

Medicentro ; 10(1): 69-74, ene.-jun. 1994. tab, ilus

Article in Spanish | LILACS | ID: lil-168731

Subject(s)

Humans , Male , Female , Infant, Newborn , 4-Hydroxyphenylpyruvate Dioxygenase/deficiency , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/therapy , Tyrosine/metabolism , Chromatography, Thin Layer , Risk Groups

Parahydroxyphenylpyruvicacidemia in tyrosinosis.

Jaiswal, R B; Bhai, I; Daginawala, H F; Nath, N; Nath, M C.

Indian Pediatr ; 1978 Nov; 15(11): 893-9

Article in English | IMSEAR | ID: sea-11638

Subject(s)

4-Hydroxyphenylpyruvate Dioxygenase/deficiency , Adolescent , Adult , Amino Acid Metabolism, Inborn Errors/blood , Child , Female , Humans , Liver/enzymology , Male , Phenylpyruvic Acids/blood , Tyrosine/blood , Tyrosine Transaminase/deficiency

Tyrosinosis (tyrosinaemia).

Jaiswal, R B.

Indian Pediatr ; 1975 Mar; 12(3): 209-10

Article in English | IMSEAR | ID: sea-16017

Subject(s)

4-Hydroxyphenylpyruvate Dioxygenase/metabolism , Amino Acid Metabolism, Inborn Errors/enzymology , Humans , Liver/enzymology , Middle Aged , Oxygenases/metabolism , Tyrosine/metabolism , Tyrosine Transaminase/metabolism

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