Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)-Reference-Cited by-同舟云学术

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Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

Published:1999-01-01 Issue:1 Volume:158 Page:83-84
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:
Short-container-title:European Journal of Pediatrics

Author:

Corsello G.,Bosco P.,Calì F.,Greco D.,Cammarata M.,Ciaccio M.,Piccione M.,Romano V.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s004310051018.pdf

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hyperphenylalaninemias, Tyrosinemias, Glycogenosis, Hyperammonemia;Clinical and Laboratory Medicine Textbook;2023

2. A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population;Clinica Chimica Acta;2021-12

3. Maternal phenylketonuria: A case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels;AM J ORTHOPSYCHIAT;2002

4. PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis;Molecular Genetics and Metabolism;2001-11

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