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Distribution of alkaline phosphatase in the serum proteins in hypophosphatasia. 1962

N H KORNER

A patient with hypophosphatasia and her relatives, including an affected brother, were studied with regard to serum alkaline phosphatase levels, phosphoethanolamine excretion, leucocyte alkaline phosphatase, blood group genes, and alkaline phosphatase distribution in the serum protein fractions. The pattern of alkaline phosphatase distribution in the serum protein fractions was normal both in the clinically affected patients and in their relatives. Thus the electrophoretic mobility of serum alkaline phosphatases is not altered in hypophosphatasia. The mere presence of phosphoethanolamine in the urine was of no help in detecting heterozygotes for the hypophosphatasia gene(s), as this substance was also found in control urines.

UI MeSH Term Description Entries
D007014 Hypophosphatasia A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) Hypophosphatasias
D008297 Male Males
D010744 Phosphoric Monoester Hydrolases A group of hydrolases which catalyze the hydrolysis of monophosphoric esters with the production of one mole of orthophosphate. Phosphatase,Phosphatases,Phosphohydrolase,Phosphohydrolases,Phosphomonoesterase,Phosphomonoesterases,Phosphoric Monoester Hydrolase,Hydrolase, Phosphoric Monoester,Hydrolases, Phosphoric Monoester,Monoester Hydrolase, Phosphoric
D001798 Blood Proteins Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins. Blood Protein,Plasma Protein,Plasma Proteins,Serum Protein,Serum Proteins,Protein, Blood,Protein, Plasma,Protein, Serum,Proteins, Blood,Proteins, Plasma,Proteins, Serum
D004396 Coloring Agents Chemicals and substances that impart color including soluble dyes and insoluble pigments. They are used in INKS; PAINTS; and as INDICATORS AND REAGENTS. Coloring Agent,Dye,Dyes,Organic Pigment,Stain,Stains,Tissue Stain,Tissue Stains,Organic Pigments,Pigments, Inorganic,Agent, Coloring,Inorganic Pigments,Pigment, Organic,Pigments, Organic,Stain, Tissue,Stains, Tissue
D004983 Ethanolamines AMINO ALCOHOLS containing the ETHANOLAMINE; (-NH2CH2CHOH) group and its derivatives. Aminoethanols
D005260 Female Females
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000075462 Serum Albumin, Human Serum albumin from humans. It is an essential carrier of both endogenous substances, such as fatty acids and BILIRUBIN, and of XENOBITOICS in the blood. Albumin Human,Human Albumin,Human Serum Albumin,Albumin, Human,Albumin, Human Serum,Human, Albumin

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