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At least 937 records · Page 52Linked to original sources
PubMed1992

[The Fanconi-Bickel syndrome: one more case].

The association of de Toni-Debré-Fanconi syndrome with alteration of galactose metabolism and glycogen hepatic storage, before further clarification, is defined as Fanconi-Bickel syndrome. The Authors present a case in which the alterations in galactose metabolism typically do not affect the enzymes responsible for galactosemia. In such patients a recognised enzymatic defect glycogenosis is not involved and glycogen storage in the liver can be a secondary phenomenon, which can increase, differing according to each subject. Liver biopsy to detect storage can be avoided when all the other diagnostic criteria are observed.

Child, Preschool↗
PubMed1975

A cytoplasmic body in human fetal endothelium.

We describe a crystalloid-containing inclusion in the cytoplasm of human fetal cells believed to be endothelium. We do not know whether it is peculiar to the fetal period, nor do we know its function.

Bone Marrow↗
PubMed1989

Outcome of end-stage renal disease in patients with rare causes of renal failure. I. Inherited and metabolic disorders.

This study represents the first national multi-center evaluation of treatment for end-stage renal disease outcome in patients with rare metabolic and inherited disorders in the United States. Because of the small number of such patients at single centers only a co-operative study could provide adequate data on enough patients for meaningful conclusions. By co-ordinating such data, the Network Forum provides a model for the newly organized U.S. Renal Data System and demonstrates the potential for useful special studies in the future. It is clear from these data that despite the systemic nature of these illnesses, treatment for ESRD can be applied to achieve excellent survival rates.

Adult↗