Mucolipidosis. 3. New studies.
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Acid Phosphatase↗
Biomedical subjects
M Robinow
Publications and source records attributed to M Robinow.
Dermatoglyphics in distal phalangeal hypoplasia.
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Abnormalities, Multiple↗
Twenty-year follow-up of a case of hypophosphatasia.
A young girl, the first surviving patient recognized as having hypophosphatasia, has been observed from age 20 months to 21 years. She is in good health. Her height has followed the 3rd percentile track. The skeletal deformities imporved during early childhood while the more striking radiographic anomalies disappeared furing puberty. But the relative osteopenia has shown minimal improvement indicating that the basic defect in bone formation persists.
Adult↗
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.
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Adolescent↗
Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects.
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Abnormalities, Multiple↗
A newly recognized dwarfing syndrome.
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Achondroplasia↗
A case of hyperlysinemia: biochemical and clinical observations.
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Amino Acid Metabolism, Inborn Errors↗
Intraventricular air and meconium-stained amniotic fluid from intrapartum rupture of myelomeningocele.
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Air↗