Biochemical properties of arginase in human adult and fetal tissues.
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Arginase↗
Biomedical subjects
S Moedjono
Publications and source records attributed to S Moedjono.
Long-limbed campomelic dwarfism. A radiologic and pathologic study.
Comparison of the roentgenographic and pathologic features of a case of classic, long-limbed campomelic dwarfism with those of previously reported cases leads to the conclusion that the bony abnormalities in this disorder are not due to an intrinsic abnormality of cartilage formation or of osteoblast or osteoclast function. Likewise, no defect in bone collagen, ground substance, or mineralization is evident. The bowing of the long bones may be the result of poorly understood muscular stresses operative in utero. Widespread defects in other organ systems are present, with considerable variation from patient to patient. Phenotypic females with disorder commonly suffer from gonadal dysgenesis. Autosomal recessive inheritance is suggested for a subgroup of these patients, but environmental factors may be causative in some instances.
Abnormalities, Multiple↗
Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.
Determination of activity and electrophoretic mobility of GALT in patients with various chromosome 9 deletions and duplications confirms the assignment of its locus to 9p and suggests its locus is in the segment 9cen leads to p22. Two inversions of 9qh (inv(9)(p11q12)) did not alter GALT expression.
Blood Protein Electrophoresis↗
Assignment of PGM3 to the long arm of human chromosome 6. Studies using Chinese hamster X human cell hybrids containing a human 6/15 translocation.
Hybrids derived from the fusion of thymidine kinase deficient Chinese hamster cells and human cells carrying a 6/15 translocation, 46,XX,t(6;15)(cen;p13), were analyzed for the expression of human PGM3, GLO and ME1. The results show that PGM3 and ME1 are on the long arm and GLO is on the short arm of human chromosomes 6.
Animals↗
Ketotic hypoglycemia in the Penta X and other chromosome imbalance syndromes.
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Abnormalities, Multiple↗