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Biomedical subjects

A I Arbisser

Publications and source records attributed to A I Arbisser.

5 recordsLinked to original sources
PubMed1977

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.

A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).

Adolescent↗
PubMed1976

Ocular findings in mannosidosis.

Three patients with typical features of mannosidosis and deficiency of alpha-mannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1976

A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature.

We have presented 2 affected sibs-a male and female-with unaffected parents and sib from a small remote northern Mexican village. The syndrome includes mental deficit, brittle hair with decreased cuticular layer and an apparently collapsed cortex. The patients' hair contains decreased sulfur content and increased concentrations of trace elements as determined by x-ray fluorescent spectroscopy. Studies are underway to evaluate other apparently similarly affected children from the village where our family originated.

Body Height↗
PubMedDate not supplied

Mesoectodermal dysgenesis: familial iris anomaly.

A family is described with hypoplasia of the anterior iris stroma, no angle anomalies, and no glaucoma. The pedigree is suggestive of an autosomal dominant mode of inheritance. This is compared to the main peripheral malformations of the anterior chamber cleavage syndrome and other disease entities with similar iris changes. The pedigree represents a point on the continuum of mesoectodermal dysgenesis or anterior chamber cleavage syndrome.

Adult↗