Genetic Disorders and Pregnancy Outcome

by Platt, Lawrence D.; Koch, Richard; De la Cruz, Felix F.

• ISBN13: 9781850707219
• ISBN10: 1850707219
• Format: Hardcover
• Copyright: 1997-01-01
• Publisher: CRC Pr I Llc

Summary

Univ. of California, Los Angeles. Compilation of the presentations made at the meeting sponsored by the National Institute of Child Health and Human Development in Bethesda, MD, on May 12-13, 1994. 15 contributors, 14 U.S. DNLM: Pregnancy Outcome--genetics.

Table of Contents

List of principal contributors	vii	(2)
Introduction	ix
1 Perspectives of metabolic diseases in pregnancy: a trip through time	1	(20)
R. F. Hume Jr
L. S. Martin
N. B. Isada
M. I. Evans
2 Nutrition findings and requirements in pregnant women with phenylketonuria	21	(12)
P. B. Acosta
K. Michals-Matalon
V. Austin
L. Castiglioni
F. Rohr
E. Wenz
C. Azen
3 Long-term follow-up of maternal phenylketonuria: an international study	33	(8)
H. L. Levy
4 The international collaborative study of maternal phenylketonuria: 1994 status report	41	(14)
R. Koch
H. L. Levy
R. Matalon
B. Rouse
W. B. Hanley
F. Trefz
C. Azen
E. G. Friedman
F. de la Cruz
F. Guttler
P. B. Acosta
5 Results of the current collaborative maternal phenylketonuria study: obstetric aspects and outcome	55	(8)
L. D. Platt
C. A. Walla
C. Azen
E. G. Friedman
R. Koch
6 Prenatal testing for maternal phenylketonuria	63	(6)
W. B. Hanley
7 Applications of molecular genetics to the diagnosis, treatment and prognosis of phenylketonuria	69	(12)
R. C. Eisensmith
S. L. C. Woo
8 The Maternal Phenylketonuria Collaborative Study - USA/Canada/Germany: developmental progress in the offspring	81	(4)
W. B. Hanley
9 Neonatal and postnatal growth measurements: Maternal Phenylketonuria Collaborative Study	85	(4)
R. Matalon
K. Michals-Matalon
C. Azen
10 Ovarian insufficiency associated with galactosemia	89	(6)
F. R. Kaufman
11 Pregnancy in Gaucher disease: the paradigm for genetic medicine	95	(12)
G. A. Grabowski
J. Moskovitz
12 The phenotype of women who have a mutation at the ornithine transcarbamylase locus	107	(6)
S. W. Brusilow
N. E. Maestri
13 The potential application of somatic gene therapy to the treatment of phenylketonuria and other monogenic diseases	113	(8)
R. C. Eisensmith
S. L. C. Woo
14 Metabolic fuels in diabetic women: embryogenesis and embryopathy	121	(16)
E. A. Reece
15 Genetic screening of metabolic disorders: applying molecular technologies and consequences on the gene pool	137	(6)
J. L. Simpson
Index	143