The article presents case studies related to the Caucasian brothers diagnosed with
phosphoglycerate kinase (PGK) deficiency. Both patients were treated with bone marrow …

Two inborn errors of purine metabolism have been associated with autosomally inherited
human immunocl~ cienc 7 diseases, A lack of adenosirw deaminase (ADA) produces …

Progressive multifocal leukoencephalopathy is a demyelinating disease caused by JC virus,
an opportunistic infection of the central nervous system. Although the majority of cases are …

Prenatal diagnosis was performed in two successive pregnancies of a mother with a
previous child with purine nucleoside phosphorylase (PNP) deficiency. In one pregnancy …

1. Enzymological and metabolic data in a patient with nucleoside phosphorylase (NP)
deficiency are described. 2. Incubation of intact NP-deficient red cells with [14C] adenosine …

Glucose-6-phosphate dehydrogenase (G6PD) deficiency causes a decreased availability of
nicotinamide adenine dinucleotide phosphate (NADPH). Patients with a severe G6PD …

Cultured skin fibroblasts from a patient with T‐cell immune deficiency and an absence of
purine nucleoside phosphorylase activity in red cells were assayed for their capacity to …

Much information has accumulated in the last decade concerning seven recently discovered
genetic deficiencies of enzymes in human purine and pyrimidine metabolism. Six are of …

T and B lymphocytes from blood and tonsils, as well as T and B lymphoid cell lines,
phosphorylate deoxyguanosine which is probably the major toxic metabolite in purine …

PNKP gene encodes for a kinase/phosphatase involved in DNA damage response,
controlled and stabilized by ATM phosphorylation. PNKP deficiency, thus far described in 40 …