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Your search keyword '"Hypophosphatasia genetics"' showing total 21 results
Start Over Descriptor "Hypophosphatasia genetics" Publication Year Range More than 50 years ago
21 results on '"Hypophosphatasia genetics"'

1. Hypophosphatasia: screening and family investigation.

Author

Rubecz I, Méhes K, Klujber L, Bozzay L, Weisenbach J, and Fenyvesi J

Subjects
Adult, Alkaline Phosphatase blood, Amino Alcohols urine, Calcium blood, Child, Cleidocranial Dysplasia complications, Cleidocranial Dysplasia diagnostic imaging, Female, Heterozygote, Homozygote, Humans, Hypophosphatasia blood, Hypophosphatasia complications, Hypophosphatasia enzymology, Hypophosphatasia urine, Infant, Leukocytes enzymology, Male, Pedigree, Phosphates urine, Radiography, Hypophosphatasia genetics
Published
1974
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3. [The different types of hypophosphatasia and their radiological symptoms (author's transl)].

Author

Rupprecht E

Subjects
Adult, Age Factors, Bone Development, Child, Child, Preschool, Female, Fetal Death, Gestational Age, Humans, Hypophosphatasia classification, Hypophosphatasia genetics, Infant, Infant, Newborn, Infant, Newborn, Diseases diagnostic imaging, Male, Pregnancy, Radiography, Bone and Bones diagnostic imaging, Hypophosphatasia diagnostic imaging
Published
1974

4. Serum alkaline phosphatase in hypophosphatasia.

Author

Warshaw JB, Littlefield JW, Fishman WH, Inglis NR, and Stolbach LL

Subjects
Bone and Bones enzymology, Dietary Fats pharmacology, Electrophoresis, Female, Hot Temperature, Humans, Hypophosphatasia genetics, Infant, Infant, Newborn, Leukocytes enzymology, Male, Phenylalanine, Phosphatidylethanolamines urine, Protein Denaturation, Stimulation, Chemical, Triglycerides pharmacology, Alkaline Phosphatase blood, Hypophosphatasia enzymology, Intestines enzymology
Abstract

It is recognized that serum alkaline phosphatase may reflect enzyme contributions from bone, liver, and intestine. We have investigated serum alkaline phosphatases in two siblings with hypophosphatasia. After administration of long-chain triglycerides, the major alkaline phosphatase component of their sera was shown to be of intestinal origin on the basis of inhibition by l-phenylalanine. Starch block electrophoresis suggested that there were other regions of l-phenylalanine-sensitive alkaline phosphatase in addition to the major slow-moving intestinal band. Medium-chain triglycerides which are absorbed by the portal route did not cause a similar augmentation of intestinal alkaline phosphatase activity. These studies indicate that serum levels of intestinal alkaline phosphatase are increased normally after long-chain fat feeding in hypophosphatasia and may be the major component of total serum alkaline phosphatase activity.

Published
1971
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5. Fatal neonatal dwarfism.

Author

Stuart Houston C, Awen CF, and Kent HP

Subjects
Achondroplasia diagnostic imaging, Achondroplasia genetics, Achondroplasia pathology, Autopsy, Chromosome Aberrations, Chromosome Disorders, Craniofacial Dysostosis diagnostic imaging, Craniofacial Dysostosis genetics, Craniofacial Dysostosis pathology, Dwarfism classification, Dwarfism genetics, Dwarfism pathology, Female, Humans, Hypophosphatasia diagnostic imaging, Hypophosphatasia genetics, Hypophosphatasia pathology, Infant, Infant, Newborn, Male, Osteogenesis Imperfecta diagnostic imaging, Osteogenesis Imperfecta genetics, Osteogenesis Imperfecta pathology, Radiography, Dwarfism diagnostic imaging, Infant, Newborn, Diseases diagnostic imaging
Published
1972

6. Genetic heterogeneity in connective-tissue disorders.

Subjects
Connective Tissue, Humans, Hypophosphatasia genetics, Joint Diseases genetics, Ehlers-Danlos Syndrome genetics, Homocystinuria genetics, Metabolism, Inborn Errors genetics, Osteogenesis Imperfecta genetics
Published
1971

8. Intestinal alkaline phosphatase activity in familial hypophosphatasia.

Author

Danovitch SH, Baer PN, and Laster L

Subjects
Adult, Alkaline Phosphatase blood, Amino Alcohols urine, Autoanalysis, Child, Child, Preschool, Chromatography, Electrophoresis, Female, Glycoside Hydrolases metabolism, Humans, Hydrogen-Ion Concentration, Hypophosphatasia diagnosis, Hypophosphatasia enzymology, Hypophosphatasia genetics, Intestinal Mucosa enzymology, Ion Exchange Resins, Leukocytes enzymology, Male, Middle Aged, Pedigree, Alkaline Phosphatase metabolism, Bone Diseases enzymology, Intestine, Small enzymology, Metabolism, Inborn Errors enzymology, Phosphoric Monoester Hydrolases metabolism
Published
1968
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10. Hypophosphatasia: genetic and dental studies.

Author

Pimstone B, Eisenberg E, and Silverman S

Subjects
Adult, Alkaline Phosphatase metabolism, Bone and Bones diagnostic imaging, Child, Preschool, Diseases in Twins genetics, Female, Humans, Hypophosphatasia genetics, Infant, Male, Metabolism, Inborn Errors diagnosis, Radiography, Tooth, Deciduous physiopathology, Jaw Diseases etiology, Metabolism, Inborn Errors genetics, Phosphoric Monoester Hydrolases metabolism, Tooth Resorption etiology
Published
1966
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11. Eye signs of hypophosphatasia.

Author

Brenner RL, Smith JL, Cleveland WW, Bejar RL, and Lockhart WS Jr

Subjects
Alkaline Phosphatase blood, Amino Alcohols urine, Arm diagnostic imaging, Edema complications, Eye Diseases complications, Eyelids, Female, Humans, Hypophosphatasia complications, Hypophosphatasia genetics, Hypophosphatasia metabolism, Infant, Optic Nerve, Orbit abnormalities, Osteogenesis Imperfecta complications, Radiography, Skull abnormalities, Skull diagnostic imaging, Bone Diseases complications, Eye Manifestations, Metabolism, Inborn Errors complications, Phosphoric Monoester Hydrolases
Published
1969
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12. Effect of treatment on renal function in severe osteomalacia due to Wilson's disease.

Author

Monro P

Subjects
Adult, Alkaline Phosphatase blood, Amino Acids blood, Amino Acids metabolism, Amino Acids urine, Ergocalciferols therapeutic use, Fanconi Syndrome complications, Hepatolenticular Degeneration drug therapy, Humans, Hypophosphatasia genetics, Kidney Calculi complications, Male, Metabolic Clearance Rate, Neurologic Manifestations, Osteomalacia etiology, Penicillamine therapeutic use, Hepatolenticular Degeneration physiopathology, Kidney physiopathology, Osteomalacia physiopathology, Sex Chromosome Aberrations
Abstract

A patient with Wilson's disease presented at the age of 41 with a neurological defect and gross osteomalacia secondary to a defect of renal tubular reabsorption. He also showed the unusual features of a renal stone in the presence of the Fanconi syndrome and a relatively low alkaline phosphatase level, possibly due to the additional inherited defect of hypophosphatasia. During four years of treatment with penicillamine and calciferol clinical improvement was spectacular. Details of amino-acid clearances before and after treatment are given, and the results suggest that, as in the brain and the liver, the function of the distal renal tubules may be restored in Wilson's disease when copper is removed.

Published
1970
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13. [A case of inborn hypophosphatasia].

Author

Wolyńska-Bochner S and Woloszczuk K

Subjects
Child, Humans, Hypophosphatasia genetics, Male, Bone Diseases, Metabolism, Inborn Errors genetics, Phosphoric Monoester Hydrolases
Published
1969

14. [Hereditary forms of rickets].

Author

Fanconi A and Prader A

Subjects
Chromosome Aberrations, Chromosome Disorders, Genes, Recessive, Humans, Hypophosphatasia diagnostic imaging, Infant, Newborn, Male, Radiography, Fanconi Syndrome genetics, Hypophosphatasia genetics, Hypophosphatemia, Familial genetics, Rickets genetics
Published
1972

15. Hypophosphatasia.

Author

Macpherson RI, Kroeker M, and Houston CS

Subjects
Alkaline Phosphatase blood, Autopsy, Calcium blood, Canada, Child, Preschool, Ethnicity, Female, Humans, Hypophosphatasia blood, Hypophosphatasia complications, Hypophosphatasia epidemiology, Hypophosphatasia genetics, Hypophosphatasia pathology, Infant, Infant, Newborn, Male, Middle Aged, Phosphates blood, Radiography, Hypophosphatasia diagnostic imaging
Published
1972

16. Genetic modes of transmission in metabolic bone disease.

Author

Jackson CE and Mock LF

Subjects
Endocrine Glands physiopathology, Fanconi Syndrome genetics, Humans, Hyperparathyroidism genetics, Hypoparathyroidism genetics, Hypophosphatasia genetics, Osteitis Deformans genetics, Osteogenesis Imperfecta genetics, Osteoporosis genetics, Pedigree, Phosphoric Monoester Hydrolases, Pseudohypoparathyroidism genetics, Renal Tubular Transport, Inborn Errors genetics, Rickets genetics, Bone Diseases genetics, Metabolism, Inborn Errors
Published
1970

17. Pseudohypophosphatasia.

Author

Scriver CR and Cameron D

Subjects
Alkaline Phosphatase blood, Child, Preschool, Female, Femur diagnostic imaging, Humans, Hypophosphatasia diagnosis, Hypophosphatasia genetics, Infant, Phenotype, Radiography, Tibia diagnostic imaging, Bone Diseases diagnosis, Metabolism, Inborn Errors diagnosis, Phosphoric Monoester Hydrolases
Published
1969
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19. Five cases of hypophosphatasia with dental findings.

Author

Kjellman M, Oldfelt V, Nordenram A, and Olow-Nordenram M

Subjects
Adolescent, Age Factors, Child, Child, Preschool, Dental Enamel Hypoplasia, Dental Pulp abnormalities, Female, Gingivitis, Humans, Hypophosphatasia genetics, Hypophosphatasia therapy, Infant, Male, Radiography, Dental, Tooth pathology, Tooth Mobility etiology, Tooth, Deciduous, Hypophosphatasia diagnosis, Tooth Abnormalities, Tooth Exfoliation etiology
Published
1973
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20. [Radiological features of hypophosphatasia. Observations in two brothers with a malignant neonatal course].

Author

Bessler W and Fanconi A

Subjects
Alkaline Phosphatase blood, Autopsy, Body Surface Area, Calcium blood, Consanguinity, Extremities diagnostic imaging, Humans, Hypophosphatasia genetics, Hypophosphatasia pathology, Infant, Newborn, Limb Deformities, Congenital, Male, Ossification, Heterotopic diagnostic imaging, Radiography, Skull abnormalities, Skull diagnostic imaging, Abnormalities, Multiple diagnostic imaging, Hypophosphatasia diagnostic imaging
Published
1972

21. Manifestations of genetic diseases in the human pulp.

Author

Witkop CJ Jr

Subjects
Avitaminosis genetics, Bone Diseases, Culture Techniques, Dental Enamel Hypoplasia genetics, Dental Pulp analysis, Dental Pulp pathology, Dentin Dysplasia genetics, Heterozygote analysis, Humans, Hypophosphatasia genetics, Metabolism, Inborn Errors genetics, Nervous System Diseases genetics, Pedigree, Phosphoric Monoester Hydrolases, Pulpotomy, Rickets, Tooth, Deciduous, Vascular Diseases genetics, Vitamin D Deficiency, Dental Pulp Diseases genetics, Genetic Diseases, Inborn, Metabolic Diseases genetics, Tooth Abnormalities genetics
Published
1971
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