Congenital hypophosphatasia. Report on two cases with special reference to phosphoethanolamine excretion. 1972

H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler

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
D007962 Leukocytes White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D004983 Ethanolamines AMINO ALCOHOLS containing the ETHANOLAMINE; (-NH2CH2CHOH) group and its derivatives. Aminoethanols
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000469 Alkaline Phosphatase An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC 3.1.3.1.
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome

Related Publications

H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
January 1955, Lancet (London, England),
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
January 1978, The American journal of medicine,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
November 2001, Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
July 1966, Rivista di clinica pediatrica,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
February 1963, British medical journal,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
November 1975, Archiv fur Gynakologie,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
January 1965, Acta Societatis Medicorum Upsaliensis,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
March 1964, Rinsho geka. Journal of clinical surgery,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
June 1976, Nihon rinsho. Japanese journal of clinical medicine,
H G Terheggen, and C Schildberg, and W Schürer, and M Van Sande, and O Bützler
October 1938, Glasgow medical journal,
Copied contents to your clipboard!