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10.1002/ajmg.1320390432.abs To explore a possible relationship between neurofibromatosis and abnormalities of galactose metabolism, we examined the activity and characteristics of red cell galactokinase and galactose‐1‐phosphate uridyl transferase in 14 white women with type 1...
10.1002/ajmg.1320390415.abs We report identification, biochemical, clinical, and genetic studies of an apparently benign, electrophoretic variant of serum prealbumin (PALB, transthyretin, TTR) in a North American kindred of Swedish ancestry. The variant polypeptide stems from a C to T point...
10.1002/ajmg.1320390423.abs We describe the first case of renal tubular dysgenesis in a newborn female who survived 15 days. The immunohistochemical and lectin binding studies confirmed the lack of proximal tubule differentiation. Electron microscopy showed undifferentiated tubular epithelium....
10.1002/ajmg.1320390422.abs Patients affected with hereditary motor sensory neuropathy (HMNS) type I were traced through hospital records. Each case was re‐examined, a family history was drawn, and EMG examination was performed in those members of the family who could have inherited the trait....
10.1002/ajmg.1320390416.abs We describe a twin with acardia acephalus or “Twin Reversed Arterial Perfusion Sequence” and prune belly sequence in the cotwin. In a former quite similar case a prune belly appearance of the co‐twin of an acardiac fetus was found to be secondary to the ascites...
10.1002/ajmg.1320390417.abs We have studied a fetus with the prenatal sonographic diagnosis of severe nonimmune hydrops fetalis at 16 weeks of gestration, who was later shown by amniocentesis to have Down syndrome.
10.1002/ajmg.1320390413.abs The association of the mouse major histocom‐patibility complex (H‐2), lung maturation, and corticosteroid responsiveness has recently been demonstrated in congenic B10 (H‐2b) and B10.A (H‐2a) mice (Hu et al.:American Journal of Medical Genetics 35:126–131,...
10.1002/ajmg.1320390419.abs A Vietnamese‐Czechoslovak type 1 Gaucher disease patient with mild hematological complications was found to have approximately 20% of the normal level of fibroblast glucocerebrosidase activity. Using primers that recognize exon 9 sequences of the glucocerebrosidase...
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