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J Pearce

Publications and source records attributed to J Pearce.

At least 145 records · Page 8Linked to original sources

Neuropathy of metachromatic leucodystrophy.

We describe two patients with metachromatic leucodystrophy who presented with peripheral neuropathy and had no evidence of central nervous system involvement at the time of presentation. Such an occurrence is not well recognized and the diagnosis is usually missed until the other features of the disease manifest themselves. Early recognition of this disease may become of practical importance from the point of view of therapy, judging from recent developments, and is also important from the point of view of genetic counselling. We suggest that cases of peripheral neuropathy in infancy and childhood, should be subjected to peripheral nerve biopsy when the aetiology is not obvious.

Biopsy

Comparative and serial assays of folate metabolism in anticonvulsant-treated epileptics.

A prospective study of folate metabolism has been conducted in outpatient anticonvulsant-treated epileptics on 68 occasions. An attempt was made to compare the relative sensitivities of serum and red cell measurements of folic acid, lactic dehydrogenase (LD), and 2 hydroxybutyric dehydrogenase (2HBD). The most sensitive indices of folate deficiency appeared to be serum folate, red cell LD, red cell folate, and red cell 2HBD, respectively. The correlation between these measurements was not close, except in comparisons of red cell and serum folate. No easily performed screening test for folate deficiency emerged. Serial changes in these measurements were carried out on 15 patients during an interval of 18 months. No progressive signs of folate depletion appeared during this time. The significance of these findings is discussed.

Adolescent

Medical interviews.

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