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Prenatal diagnosis of inborn errors of metabolism with renal manifestations

โœ Scribed by Erik Harms

Publisher
Springer
Year
1987
Tongue
English
Weight
603 KB
Volume
1
Category
Article
ISSN
0931-041X

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Prenatal diagnosis for inborn errors of
Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience
โœ K. Sasi; D. Sanderson; P. Eydoux; L. Cartier; C. R. Scriver; E. Treacy ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 72 KB ๐Ÿ‘ 3 views

We reviewed all referrals for prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies performed at the Montreal Children's Hospital Prenatal Diagnosis Centre/McGill University during the period 1990-1995; 92 procedures were performed for these indications (less than 1 per cent of

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## Abstract In general, data regarding maturational processes of different metabolic pathways in the very vulnerable fetal and neonatal period are rare. This review is to substantiate the impact of selected inborn errors of metabolism on this critical period of life and their clinical manifestation