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Publikationer som ChEBI hänvisar till för hawkinsin. Visa hela publikationsregistret

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Publications in the selection

6 hits

Bibliografisk träff 2016-08-03

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM.

J Inherit Metab Dis · journal article; case reports · DOI 10.1007/s10545-016-9963-8

Bibliografisk träff 2010-08-01

Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.

Brownlee JM, Heinz B, Bates J, Moran GR.

Biochemistry · research support, non-u.s. gov't; research support, u.s. gov't, non-p.h.s.; journal article · DOI 10.1021/bi1008112

Bibliografisk träff 2000-11-01

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.

Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F.

Mol Genet Metab · research support, non-u.s. gov't; journal article; case reports · DOI 10.1006/mgme.2000.3085

Bibliografisk träff 1978-12-01

Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase.

Niederwieser A, Wadman SK, Danks DM.

Clin Chim Acta · comparative study; journal article · DOI 10.1016/0009-8981(78)90522-3

Bibliografisk träff 1978-09-01

New tyrosine metabolites in humans: hawkinsin and cis- and trans-4-hydroxycyclohexylacetic acids. Unusual adsorption of deuterated and non-deuterated hawkinsin during gas chromatography.

Niederwieser A, Matasović A, Neuheiser F, Wetzel E.

J Chromatogr · journal article · DOI 10.1016/s0378-4347(00)81886-1

Bibliografisk träff 1977-05-01

A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother.

Niederwieser A, Matasovic A, Tippett P, Danks DM.

Clin Chim Acta · journal article; case reports · DOI 10.1016/0009-8981(77)90161-9