Literature DB >> 6694013

Maternal hyperphenylalaninemia fetal effects.

A Lipson, B Beuhler, J Bartley, D Walsh, J Yu, M O'Halloran, W Webster.   

Abstract

Thirty-four children of 11 mothers with untreated hyperphenylalaninemia had a pattern of malformation consisting of prenatal and postnatal growth retardation, microcephaly and central nervous system dysfunction, increased incidence of malformations, and a peculiar facial appearance. Maternal hyperphenylalaninemia appears to be teratogenic, with a variability related to the blood phenylalanine concentration.

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Year:  1984        PMID： 6694013     DOI： 10.1016/s0022-3476(84)80995-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  14 in total

Review 1.  Pharmaceutical excipients. Adverse effects associated with 'inactive' ingredients in drug products (Part II).

Authors:  L K Golightly; S S Smolinske; M L Bennett; E W Sutherland; B H Rumack
Journal:  Med Toxicol Adverse Drug Exp       Date:  1988 May-Jun

2.  A male infant with the Catel-Manzke syndrome and dislocatable knees.

Authors:  E M Thompson; R M Winter; M J Williams
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

3.  Maternal PKU syndrome in an exceptional family with unexpected PKU.

Authors:  J B De Klerk; S K Wadman; H J Dijkhuis; E E Meuleman
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.

Authors:  Morteza Bagheri; Isa Abdi Rad; Nima Hosseini Jazani; Rasoul Zarrin; Ahad Ghazavi
Journal:  Maedica (Bucur)       Date:  2015-09

5.  Maternal Phenylketonuria Collaborative Study (MPKUCS)--the 'outliers'.

Authors:  W B Hanley; C Azen; R Koch; K Michals-Matalon; R Matalon; B Rouse; F Trefz; S Waisbren; F de la Cruz
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

6.  Maternal phenylketonuria: comparison of two treated full term pregnancies.

Authors:  R P Soeters; R C Sengers; P W van Dongen; J M Trijbels; T K Eskes
Journal:  Eur J Pediatr       Date:  1986-08       Impact factor: 3.183

7.  Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Authors:  Nadja Ehmke; Almuth Caliebe; Rainer Koenig; Sarina G Kant; Zornitza Stark; Valérie Cormier-Daire; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Kirstin Hoff; Amit Kawalia; Holger Thiele; Janine Altmüller; Björn Fischer-Zirnsak; Alexej Knaus; Na Zhu; Verena Heinrich; Celine Huber; Izabela Harabula; Malte Spielmann; Denise Horn; Uwe Kornak; Jochen Hecht; Peter M Krawitz; Peter Nürnberg; Reiner Siebert; Hermann Manzke; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2014-12-04       Impact factor: 11.025

8.  The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report.

Authors:  W B Hanley; R Koch; H L Levy; R Matalon; B Rouse; C Azen; F de la Cruz
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

Review 9.  Gestational carrier--a reproductive haven for offspring of mothers with phenylketonuria (PKU): an alternative therapy for maternal PKU.

Authors:  R O Fisch; G Tagatz; J P Stassart
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

10.  Origin of the left coronary artery from the right pulmonary artery and ventricular septal defect in a child of a mother with raised plasma phenylalanine concentrations throughout pregnancy.

Authors:  D Henglein; H Niederhoff; H Bode
Journal:  Br Heart J       Date:  1990-03
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