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Biomedical subjects

L Corbeel

Publications and source records attributed to L Corbeel.

At least 55 records · Page 3Linked to original sources
PubMed1977

Congenital scalp defect with distal limb reduction anomalies.

Congenital scalp defects and distal limb reduction anomalies can occur as separate entities or in combination with other anomalies. They also occur together in an apparently autosomal dominant syndrome, an example of which is described in the present paper. The literature on the subject is reviewed.

Abnormalities, Multiple↗
PubMed1976

Glomerulonephritis in late-onset cystinosis. Report of two cases and review of the literature.

This paper describes the clinical history of two male nontwin siblings with late-onset cystinosis, a variant of cystine storage disease. The diagnosis was established clinically and confirmed by measurement of cystine concentrations in leucocytes and skin-fibroblasts. Both patients presented with an incomplete nephrotic syndrome and renal biopsy showed, in addition to lesions of polykaryocytosis, a picture of focal and segmental glomerular hyalinosis. Renal function was stable in one patient over a follow-up period of two years; the other patient progressed toward terminal renal failure and was successfully transplanted.

Adolescent↗
PubMed1975

Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.

The clinical and metabolic data of 2 cases of methylmalonic acidaemia with propionic acidaemia are reported together with those of 3 other patients with nonketotic hyperglycinaemia. Liver enzymatic studies showed decreased activity in vitro of the glycine cleavage enzyme in one patient with methylmalonic acidaemia as well as in 2 unrelated patients with nonketotic hyperglycinaemia, while the activity of the serine hydroxymethylase enzyme was normal. Hyperammonaemia was substantiated in one patient with methylmalonic acidaemia and also in one child with nonketotic hyperglycinaemia. The activity of the enzymes of the urea cycle, determined in the liver of this nonketotic child, was normal except for a decrease of the carbamyl phosphate synthetase enzyme to 15% of normal.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.

Persistent neutropenia and repeated respiratory infections were documented in a girl with glycogen storage disease type Ib. A termino-lateral portacaval shunt resulted in normalisation of the granulocyte counts and disappearance of the recurrent infections. The platelet dysfunction that was apparent before surgery, was also corrected by the shunting procedure. A marked hypochromic anaemia, however, probably caused by a sequestration of iron in the spleen and resistant to therapy, remains a persistent feature in this patient.

Anemia, Hypochromic↗