✦ LIBER ✦

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

✍ Scribed by J. L. Johnson; K. V. Rajagopalan; J. T. Lanman; R. B. H. Schutgens; A. H. van Gennip; P. Sorensen; D. A. Applegarth

Publisher: Springer
Year: 1991
Tongue: English
Weight: 525 KB
Volume: 14
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01800477

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

β-Glucuronidase deficiency as cause of r

β-Glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

✍ H. W. F. van Eyndhoven; H. G. ter Brugge; A. J. van Essen; W. J. Kleijer 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week of the subsequent pregnancy and beta-glucuronidas

Prenatal diagnosis of pyruvate carboxyla

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples

✍ R. N. Van Coster; S. Janssens; J.-P. Misson; A. Verloes; J. G. Leroy 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB

Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct mea

Prenatal diagnosis of the carbohydrate-d

Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

✍ Joanne Charlwood; Peter Clayton; Geoffrey Keir; Nasi Mian; Elisabeth Young; Brya 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 1 views

Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in