منابع مشابه
Heterozygote Detection
saemia in a British hospital, with emphasis on heterozygote detection. Results are reported of a screening programme for galactosaemia covering a period of 2A years and 6415 births. The gene frequency for galactosaemia estimated from the data of the screening programme was 0-002. This conflicted with the known livebirth incidence of at least 1: 50,000 during this same period. 2 of the 4 galacto...
متن کاملHeterozygote Hemoglobin J Iran in Combination with Hemoglobin H Disease
This is a report concerning a concurrent case of hemoglobin J Iran (Hb J Iran) and Hemoglobin H (Hb H) disease in an Iranian woman. The patient was coincidentally found during the course of routine pre-marital genetic counselling for her son. The diagnosis of heterozygote Hb J Iran for her son, ultimately led to the diagnosis of concurrent Hb J Iran and Hb H disease. The hematological examinati...
متن کاملHomocystinuria: Heterozygote Detection
cytes as a readily available source of this enzyme, its activity has been compared in 48 control subjects, seven homozygotes affected with homocystinuria, and 17 obligate heterozygotes. PHA-induced enzyme levels were highest in controls (mean ±SEM, 666.9±170.2 pmol cystathionine formed/mg protein per 4 h), intermediate in heterozygotes (114.4±27.3), and absent to severely deficient in homozygot...
متن کاملHeterozygote Screening in Tay-sachs Disease
In 1887, Bernard Sachs reported on the clinical features diagnostic signs and symptoms and pathology of a patient with a condition that would someday bear his name(l). It was several decades later before it was discovered that these patients suffered from a recessive genetic trait resulting in the accumulation of a specific ganglioside, GM2, due to the deficiency of the lysosomal enzyme hexosam...
متن کاملHeterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
Heterozygote detection for angiokeratoma corporis diffusum (Anderson-Fabry disease, ACD), an X-linked disorder of glycosphingolipid metabolism was examined using alpha-galactosidase activity, an alpha-galactosidase/beta-galactosidase activity ratios (alpha/beta ratio) in leucocytes, plasma, and hair follicles; For leucocytes, 22 obligate heterozygotes, 25 suspected heterozygotes, and 47 control...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197404000-00319