✦ LIBER ✦

Pretreatment Serum Phenylalanine Levels As a Predictor of the Severity of the Mutation in the Phenylalanine Hydroxylase Gene and Phenylalanine Tolerance in Patients with Phenylketonuria

✍ Scribed by R.H. Singh; P. Dembure; R.C. Eisensmith; N.V. Guerrero; K. Sullivan; L.J. Elsas

Book ID: 113973387
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 143 KB
Volume: 99
Category: Article
ISSN: 0002-8223
DOI: 10.1016/s0002-8223(99)00450-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Severity of mutation in the phenylalanin

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes

✍ E. Svensson; L. Iselius; L. Hagenfeldt 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 485 KB

Mutations of the phenylalanine hydroxyla

Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria

✍ A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M. Gomes; M.A. Zago 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 2 views

The mutations and VNTRs in the phenylala

The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg

✍ S. Baranovskaya; S. Shevtsov; S. Maksimova; A. Kuzmin; E. Schwartz 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 95 KB

RFLP haplotyping and mutation analysis o

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families

✍ Henk Meijer; Roselie J. E. Jongbloed; M. Hekking; Leo J. M. Spaapen; Joep P. M. 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 523 KB

Large deletions in the phenylalanine hyd

Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India

✍ P. Guldberg; K. F. Henriksen; K. C. Mammen; H. L. Levy; F. Güttler 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 43 KB

Gypsy phenylketonuria: A point mutation

Gypsy phenylketonuria: A point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia

✍ Kalanin, Jan ;Takarada, Yutaka ;Kagawa, Shohei ;Yamashita, Keiko ;Ohtsuka, Norim 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 508 KB

A direct mutational analysis of the phenylalanine hydroxylase gene (PAH) in Gypsy families with phenylketonuria (PKU) has not yet been presented. However, they obviously represent a group at high risk for this inherited disease. We analyzed the PAH loci of 65 Gypsies originating from Eastern Slovaki