phosphorylethanolamine has been researched along with Hypophosphatasia in 45 studies
phosphorylethanolamine: RN given refers to parent cpd; structure
O-phosphoethanolamine : The ethanolamine mono-ester of phosphoric acid, and a metabolite of phospholipid metabolism. This phosphomonoester shows strong structural similarity to the inhibitory neurotransmitter GABA, and is decreased in post-mortem Alzheimer's disease brain.
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)
| Excerpt | Relevance | Reference |
|---|---|---|
| "To investigate the utility of serum pyridoxal 5'-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) as a diagnostic marker of hypophosphatasia (HPP) and an indicator of the effect of, and patient compliance with, enzyme replacement therapy (ERT), we measured PLP, PL, and PA concentrations in serum samples from HPP patients with and without ERT." | 7.88 | Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy. ( Akiyama, T; Harada, D; Kitanaka, S; Kobayashi, D; Kobayashi, K; Kubota, T; Matsunami, K; Michigami, T; Mitani, Y; Namba, N; Noda, M; Ogawa, E; Ozono, K; Sugiyama, Y; Suzuki, A; Takeyari, S; Takishima, S; Uematsu, M; Utoyama, M, 2018) |
| "Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B(6)) in hypophosphatasia (HPP) are incompletely understood." | 7.74 | Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. ( Baumgartner-Sigl, S; Ericson, KL; Haberlandt, E; Högler, W; Mumm, S; Ryan, L; Scholl-Bürgi, S; Sergi, C; Whyte, MP, 2007) |
| "Hypophosphatasia is an inherited disease in which a deficiency of the bone/liver/kidney or tissue nonspecific isoenzyme of alkaline phosphatase (AP; EC 3." | 5.27 | Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease. ( Caswell, AM; Macfarlane, JD; Poorthuis, BJ; Russell, RG; van de Kamp, JJ, 1988) |
| " Measurement of serum pyridoxal phosphate and urine phosphoethanolamine for the diagnosis of hypophosphatasia revealed concentrations of 541." | 3.88 | Low serum alkaline phosphatase activity due to asymptomatic hypophosphatasia in a teenage girl. ( Casella, SJ; Cervinski, MA; Johnston, AA; Shajani-Yi, Z, 2018) |
| "To investigate the utility of serum pyridoxal 5'-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) as a diagnostic marker of hypophosphatasia (HPP) and an indicator of the effect of, and patient compliance with, enzyme replacement therapy (ERT), we measured PLP, PL, and PA concentrations in serum samples from HPP patients with and without ERT." | 3.88 | Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy. ( Akiyama, T; Harada, D; Kitanaka, S; Kobayashi, D; Kobayashi, K; Kubota, T; Matsunami, K; Michigami, T; Mitani, Y; Namba, N; Noda, M; Ogawa, E; Ozono, K; Sugiyama, Y; Suzuki, A; Takeyari, S; Takishima, S; Uematsu, M; Utoyama, M, 2018) |
| "Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B(6)) in hypophosphatasia (HPP) are incompletely understood." | 3.74 | Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. ( Baumgartner-Sigl, S; Ericson, KL; Haberlandt, E; Högler, W; Mumm, S; Ryan, L; Scholl-Bürgi, S; Sergi, C; Whyte, MP, 2007) |
| "A kindred with dominant hypophosphatasia resulting from an alanine to threonine substitution at position 99 of the alkaline phosphatase protein is described." | 3.70 | Characterization of a family with dominant hypophosphatasia. ( Hu, JC; Mornet, E; Plaetke, R; Simmer, JP; Sun, X; Thomas, HF; Zhang, C, 2000) |
| "Pyridoxine-sensitive seizures characterize severe forms of infantile HPP." | 1.46 | Neuromuscular features of hypophosphatasia. ( Fonta, C; Salles, JP, 2017) |
| "Hypophosphatasia is a rare genetic disease characterized by deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, excessive urinary excretion of phosphoethanolamine, poor bone mineralization and skeletal anomalies." | 1.33 | Neonatal hypophosphatasia and seizures. A case report. ( Meli, C; Palazzo, P; Romeo, DM; Smilari, P; Sorge, G, 2005) |
| "Hypophosphatasia is an inherited disease characterised by low tissue non-specific alkaline phosphatase (TNSALP) levels and skeletal defects." | 1.31 | Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia. ( Chapman, C; Cole, R; Davies, T; Iqbal, SJ; Whitaker, P, 2000) |
| "Infantile hypophosphatasia is a rare inborn error of metabolism in which the expression of the liver/kidney/bone locus of the alkaline phosphatase gene is defective." | 1.27 | Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. ( Milne, JK; Mohyuddin, F; Mueller, HD; Stinson, RA, 1983) |
| "Hypophosphatasia is an inherited disease in which a deficiency of the bone/liver/kidney or tissue nonspecific isoenzyme of alkaline phosphatase (AP; EC 3." | 1.27 | Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease. ( Caswell, AM; Macfarlane, JD; Poorthuis, BJ; Russell, RG; van de Kamp, JJ, 1988) |
| "Articular chondrocalcinosis was observed in both cases, as was a decrease in alkaline phosphatase and the increased urinary excretion of phosphoethanolamine." | 1.27 | [Hypophosphatasia in adults. Apropos of 2 cases]. ( Cassou, M; Guidet, M; Wendling, D, 1985) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 22 (48.89) | 18.7374 |
| 1990's | 8 (17.78) | 18.2507 |
| 2000's | 5 (11.11) | 29.6817 |
| 2010's | 7 (15.56) | 24.3611 |
| 2020's | 3 (6.67) | 2.80 |
| Authors | Studies |
|---|---|
| Held, CM | 1 |
| Guebelin, A | 1 |
| Krebs, A | 1 |
| Sass, JO | 1 |
| Wurm, M | 1 |
| Lausch, E | 1 |
| van der Werf-Grohmann, N | 1 |
| Schwab, KO | 1 |
| Shajani-Yi, Z | 2 |
| Ayala-Lopez, N | 1 |
| Black, M | 1 |
| Dahir, KM | 1 |
| Bayramli, R | 1 |
| Cevlik, T | 1 |
| Guran, T | 1 |
| Atay, Z | 1 |
| Bas, S | 1 |
| Haklar, G | 1 |
| Bereket, A | 1 |
| Turan, S | 1 |
| McKiernan, FE | 1 |
| Dong, J | 1 |
| Berg, RL | 1 |
| Scotty, E | 1 |
| Mundt, P | 1 |
| Larson, L | 1 |
| Rai, I | 1 |
| Fonta, C | 1 |
| Salles, JP | 1 |
| Johnston, AA | 1 |
| Casella, SJ | 1 |
| Cervinski, MA | 1 |
| Akiyama, T | 1 |
| Kubota, T | 1 |
| Ozono, K | 1 |
| Michigami, T | 1 |
| Kobayashi, D | 1 |
| Takeyari, S | 1 |
| Sugiyama, Y | 1 |
| Noda, M | 1 |
| Harada, D | 1 |
| Namba, N | 1 |
| Suzuki, A | 1 |
| Utoyama, M | 1 |
| Kitanaka, S | 1 |
| Uematsu, M | 1 |
| Mitani, Y | 1 |
| Matsunami, K | 1 |
| Takishima, S | 1 |
| Ogawa, E | 1 |
| Kobayashi, K | 1 |
| Kyöstilä, K | 1 |
| Syrjä, P | 1 |
| Lappalainen, AK | 1 |
| Arumilli, M | 1 |
| Hundi, S | 1 |
| Karkamo, V | 1 |
| Viitmaa, R | 1 |
| Hytönen, MK | 1 |
| Lohi, H | 1 |
| Riancho-Zarrabeitia, L | 1 |
| García-Unzueta, M | 1 |
| Tenorio, JA | 1 |
| Gómez-Gerique, JA | 1 |
| Ruiz Pérez, VL | 1 |
| Heath, KE | 1 |
| Lapunzina, P | 1 |
| Riancho, JA | 1 |
| Imbard, A | 1 |
| Alberti, C | 1 |
| Armoogum-Boizeau, P | 1 |
| Ottolenghi, C | 1 |
| Josserand, E | 1 |
| Rigal, O | 1 |
| Benoist, JF | 1 |
| McCANCE, RA | 1 |
| MORRISON, AB | 1 |
| DENT, CE | 1 |
| CUSWORTH, DC | 1 |
| GOYER, RA | 1 |
| HARRIS, H | 1 |
| ROBSON, EB | 1 |
| KORNER, NH | 1 |
| Smilari, P | 1 |
| Romeo, DM | 1 |
| Palazzo, P | 1 |
| Meli, C | 1 |
| Sorge, G | 1 |
| Baumgartner-Sigl, S | 1 |
| Haberlandt, E | 1 |
| Mumm, S | 1 |
| Scholl-Bürgi, S | 1 |
| Sergi, C | 1 |
| Ryan, L | 1 |
| Ericson, KL | 1 |
| Whyte, MP | 6 |
| Högler, W | 1 |
| Terheggen, HG | 1 |
| Wischermann, A | 1 |
| Rico Lenza, H | 1 |
| Paniagua Garrido, MC | 1 |
| Rosa García, M | 1 |
| Huertas García-Alejo, R | 1 |
| Eastman, JR | 2 |
| Bixler, D | 3 |
| Eberle, F | 1 |
| Hartenfels, S | 1 |
| Pralle, H | 1 |
| Käbisch, A | 1 |
| Pillans, PI | 1 |
| Berman, P | 1 |
| Saunders, SJ | 1 |
| Mueller, HD | 1 |
| Stinson, RA | 1 |
| Mohyuddin, F | 1 |
| Milne, JK | 1 |
| Eastman, J | 1 |
| Weinstein, RS | 1 |
| Millán, JL | 1 |
| Avioli, LV | 1 |
| Fishman, WH | 1 |
| Tecza, S | 1 |
| Prandota, J | 1 |
| Morawska, Z | 1 |
| Rudzka, M | 1 |
| Panków-Prandota, L | 1 |
| Landt, M | 1 |
| Ryan, LM | 1 |
| Mulivor, RA | 1 |
| Henthorn, PS | 1 |
| Fedde, KN | 3 |
| Mahuren, JD | 1 |
| Coburn, SP | 1 |
| Machtei, EE | 1 |
| Ben-Yehouda, A | 1 |
| Zubery, Y | 1 |
| Sela, BA | 1 |
| Hu, JC | 1 |
| Plaetke, R | 1 |
| Mornet, E | 1 |
| Zhang, C | 1 |
| Sun, X | 1 |
| Thomas, HF | 1 |
| Simmer, JP | 1 |
| Iqbal, SJ | 1 |
| Davies, T | 1 |
| Cole, R | 1 |
| Whitaker, P | 1 |
| Chapman, C | 1 |
| Watanabe, H | 1 |
| Hashimoto-Uoshima, M | 1 |
| Goseki-Sone, M | 1 |
| Orimo, H | 1 |
| Ishikawa, I | 1 |
| Sørensen, SA | 1 |
| Flodgaard, H | 1 |
| Sørensen, E | 1 |
| Licata, AA | 2 |
| Radfar, N | 1 |
| Bartter, FC | 1 |
| Bou, E | 1 |
| Kishi, F | 1 |
| Matsuura, S | 1 |
| Murano, I | 1 |
| Akita, A | 1 |
| Kajii, T | 1 |
| Lundgren, T | 1 |
| Westphal, O | 1 |
| Bolme, P | 1 |
| Modéer, T | 1 |
| Norén, JG | 1 |
| Cole, DE | 1 |
| Chodirker, BN | 2 |
| Evans, JA | 2 |
| Seargeant, LE | 2 |
| Cheang, MS | 1 |
| Greenberg, CR | 2 |
| Macfarlane, JD | 1 |
| Poorthuis, BJ | 1 |
| van de Kamp, JJ | 1 |
| Russell, RG | 1 |
| Caswell, AM | 1 |
| Lewis, M | 1 |
| Coghlan, G | 1 |
| Belcher, E | 1 |
| Philipps, S | 1 |
| Sus, C | 1 |
| Sakurai, M | 1 |
| Sano, F | 1 |
| Ominato, M | 1 |
| Kato, M | 1 |
| Kamata, M | 1 |
| Koike, M | 1 |
| Inoue, T | 1 |
| Ishida, M | 1 |
| Wendling, D | 1 |
| Cassou, M | 1 |
| Guidet, M | 1 |
45 other studies available for phosphorylethanolamine and Hypophosphatasia
| Article | Year |
|---|---|
Screening for hypophosphatasia: does biochemistry lead the way?
Topics: Adolescent; Alkaline Phosphatase; Child; Child, Preschool; Ethanolamines; Female; Humans; Hypophosph | 2022 |
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Topics: Adult; Alkaline Phosphatase; Biomarkers; Creatinine; Ethanolamines; Humans; Hypophosphatasia; Pyrido | 2022 |
Clinical Significance of Hypophosphatasemia in Children.
Topics: Alkaline Phosphatase; Child; Ethanolamines; Female; Heterozygote; Humans; Hypophosphatasia; Male; Py | 2020 |
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
Topics: Adult; Aged; Aged, 80 and over; Alkaline Phosphatase; DNA Mutational Analysis; Ethanolamines; Female | 2017 |
Neuromuscular features of hypophosphatasia.
Topics: Adult; Alkaline Phosphatase; Animals; Biomarkers; Brain Diseases; Chronic Pain; Disease Models, Anim | 2017 |
Low serum alkaline phosphatase activity due to asymptomatic hypophosphatasia in a teenage girl.
Topics: Adolescent; Alkaline Phosphatase; Ceruloplasmin; Ethanolamines; Female; Humans; Hypophosphatasia; Py | 2018 |
Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
Topics: Adolescent; Adult; Alkaline Phosphatase; Child; Child, Preschool; Chromatography, High Pressure Liqu | 2018 |
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia.
Topics: Alkaline Phosphatase; Amino Acid Sequence; Animals; Breeding; Calcification, Physiologic; Conserved | 2019 |
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
Topics: Adult; Aged; Alkaline Phosphatase; Calcium; Ethanolamines; Female; Heterozygote; Humans; Hypophospha | 2016 |
Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.
Topics: Adolescent; Adult; Child; Child, Preschool; Ethanolamines; Humans; Hypophosphatasia; Infant; Infant, | 2012 |
The excretion of phosphoethanolamine and hypophosphatasia.
Topics: Amino Alcohols; Ethanolamines; Humans; Hypophosphatasia; Phosphoric Monoester Hydrolases | 1955 |
The isolation and identification of phosphoethanolamine from the urine of a case of hypophosphatasia.
Topics: Amino Alcohols; Ethanolamines; Humans; Hypophosphatasia; Phosphatidylethanolamines; Phosphoric Monoe | 1958 |
Ethanolamine phosphate excretion in a family with hypophosphatasia.
Topics: Alkaline Phosphatase; Bone Diseases; Ethanolamines; Humans; Hypophosphatasia; Phosphates; Phosphorus | 1963 |
A genetical study of ethanolamine phosphate excretion in hypophosphatasia.
Topics: Amino Alcohols; Ethanolamines; Humans; Hypophosphatasia; Phosphoric Monoester Hydrolases | 1959 |
Distribution of alkaline phosphatase in the serum proteins in hypophosphatasia.
Topics: Alkaline Phosphatase; Blood Proteins; Coloring Agents; Ethanolamines; Female; Genetic Carrier Screen | 1962 |
Neonatal hypophosphatasia and seizures. A case report.
Topics: Chromatography, Ion Exchange; Ethanolamines; Humans; Hypophosphatasia; Infant; Infant, Newborn; Infa | 2005 |
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Topics: Alkaline Phosphatase; Ethanolamines; Exons; Fatal Outcome; Female; Humans; Hypercalcemia; Hypercalci | 2007 |
[Congenital hypophosphatasia].
Topics: Adolescent; Adult; Alkaline Phosphatase; Calcium; Child; Child, Preschool; Diagnosis, Differential; | 1984 |
[Hypophosphatasia in the adult. Considerations apropos of a case].
Topics: Adult; Alkaline Phosphatase; Back Pain; Ethanolamines; Female; Humans; Hypophosphatasia; Leukocytes | 1982 |
Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality.
Topics: Age Factors; Alkaline Phosphatase; Ethanolamines; Female; Genes, Dominant; Genes, Lethal; Homozygote | 1983 |
Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family.
Topics: Adult; Aged; Alkaline Phosphatase; Biopsy; Dental Caries; Ethanolamines; Female; Heterozygote; Human | 1984 |
Cholestatic jaundice with a normal serum alkaline phosphatase level: another case of hypophosphatasia in an adult.
Topics: Age Factors; Aged; Alkaline Phosphatase; Cholestasis; Ethanolamines; Humans; Hypophosphatasia; Male | 1983 |
Isoenzymes of alkaline phosphatase in infantile hypophosphatasia.
Topics: Adult; Alkaline Phosphatase; Bone and Bones; Ethanolamines; Female; Humans; Hypophosphatasia; Infant | 1983 |
Lethal and mild hypophosphatasia in half-sibs.
Topics: Adult; Aged; Alkaline Phosphatase; Child; Dental Cementum; Ethanolamines; Female; Genes, Dominant; G | 1982 |
Heterogeneity of adult hypophosphatasia. Report of severe and mild cases.
Topics: Alkaline Phosphatase; Body Height; Bone and Bones; Calcitonin; Ethanolamines; Female; Humans; Hypoph | 1981 |
Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred.
Topics: Adult; Alkaline Phosphatase; Bone Marrow; Ethanolamines; Female; Humans; Hypophosphatasia; Isoenzyme | 1980 |
[Hypophosphatasia with normal urinary phosphoethanolamine in a 22-month-old girl].
Topics: Alkaline Phosphatase; Ethanolamines; Female; Humans; Hypophosphatasia; Infant; Organophosphorus Comp | 1980 |
Urinary phosphoethanolamine: normal values by age.
Topics: Adolescent; Adult; Age Factors; Aged; Child; Child, Preschool; Ethanolamines; Female; Humans; Hypoph | 1980 |
Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy.
Topics: Alkaline Phosphatase; Diphosphates; Ethanolamines; Female; Heterozygote; Humans; Hypophosphatasia; I | 1995 |
Lack of evidence for hypophosphatasia as a factor in the pathogenesis of early-onset periodontitis.
Topics: Adult; Aggressive Periodontitis; Alkaline Phosphatase; Ethanolamines; Female; Humans; Hypophosphatas | 1994 |
Characterization of a family with dominant hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Amino Acid Substitution; Child; Dental Cementum; Dental Enamel Hypopl | 2000 |
Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia.
Topics: Adult; Alkaline Phosphatase; Child, Preschool; Ethanolamines; Female; Heterozygote; Humans; Hypophos | 2000 |
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
Topics: Alanine; Alkaline Phosphatase; Alleles; Alveolar Bone Loss; Chromosomes, Human, Pair 1; Cytosine; Et | 2001 |
Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia.
Topics: Alkaline Phosphatase; Diphosphates; Ethanolamines; Female; Humans; Hypophosphatasia; Organophosphoru | 1978 |
The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia.
Topics: Adolescent; Adult; Age Factors; Bone Diseases; Child; Circadian Rhythm; Dietary Proteins; Endocrine | 1978 |
Prenatal diagnosis of infantile hypophosphatasia.
Topics: Alkaline Phosphatase; Blotting, Southern; Chorionic Villi Sampling; DNA Probes; Ethanolamines; Femal | 1991 |
Retrospective study of children with hypophosphatasia with reference to dental changes.
Topics: Adolescent; Alkaline Phosphatase; Bone Resorption; Child; Child, Preschool; Dental Cementum; Dentin; | 1991 |
Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts.
Topics: Alkaline Phosphatase; Cells, Cultured; Ethanolamines; Fibroblasts; Humans; Hymecromone; Hypophosphat | 1990 |
Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.
Topics: Alkaline Phosphatase; Cell Membrane; Enzyme Activation; Ethanolamines; Fibroblasts; Humans; Hydrogen | 1990 |
Increased urinary phosphoethanolamine in a man with asymptomatic osteopenia.
Topics: Bone Diseases, Metabolic; Ethanolamines; Humans; Hypophosphatasia; Male; Middle Aged | 1990 |
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.
Topics: Adult; Alkaline Phosphatase; Biomarkers; Calcium; Ethanolamines; Female; Genetic Carrier Screening; | 1990 |
Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease.
Topics: Adolescent; Adult; Aged; Alkaline Phosphatase; Child; Diphosphates; Ethanolamines; Female; Humans; H | 1988 |
Infantile hypophosphatasia--linkage with the RH locus.
Topics: Adult; Alkaline Phosphatase; Ethanolamines; Female; Genetic Linkage; Heterozygote; Humans; Hypophosp | 1987 |
[A case of asymptomatic adult hypophosphatasia].
Topics: Adult; Alkaline Phosphatase; Ethanolamines; Female; Humans; Hypophosphatasia; Leukocytes | 1988 |
[Hypophosphatasia in adults. Apropos of 2 cases].
Topics: Adult; Alkaline Phosphatase; Bone and Bones; Chondrocalcinosis; Ethanolamines; Female; Fractures, Sp | 1985 |