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 | Reference |
|---|
| "Hypophosphatasia is an inborn error of metabolism that is characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) in serum and in tissues." | ( Henthorn, PS; Whyte, MP, 1992) |
| "Hypophosphatasia is a heritable metabolic bone disease with characteristically reduced levels of alkaline phosphatase (ALP) in the blood, liver, kidney and bone." | ( Wüster, C; Ziegler, R, 1992) |
| "Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression." | ( Fedde, KN; Henthorn, PS; Lafferty, MA; Raducha, M; Whyte, MP, 1992) |
| "Hypophosphatasia is an inherited disorder characterized by defective mineralization of the skeletal and dental structures of the body and deficient liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity." | ( Chapple, IL; Glenwright, HD; Green, A; Grundy, M; Matthews, JB; Perry, GM; Saxby, MS; Shaw, L; Smith, JM; Thorpe, GH, 1992) |
| "Hypophosphatasia is a rare inherited disorder in which the activity of the bone/liver/kidney or tissue nonspecific form of alkaline phosphatase (ALP) is reduced." | ( Caswell, AM; Russell, RG; Whyte, MP, 1991) |
| "Hypophosphatasia is a hereditary disease characterized by congenital deficiency of tissue alkaline phosphatase." | ( Shimooka, S; Takagi, M; Takahashi, M, 1989) |
| "Hypophosphatasia is a heritable disorder characterized by defective osteogenesis and deficient liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity." | ( Cole, DE; Harris, H; Lafferty, MA; Mulivor, R; Ray, K; Weiss, MJ; Whyte, MP, 1989) |
| "Hypophosphatasia is a heritable disorder characterized by defective bone mineralization and a deficiency of liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity in serum and tissues." | ( Fallon, MD; Fedde, KN; Harris, H; Lafferty, MA; Mulivor, RA; Ray, K; Weiss, MJ; Whyte, MP, 1989) |
| "Hypophosphatasia is an inherited disease in which a deficiency of the bone/liver/kidney or tissue nonspecific isoenzyme of alkaline phosphatase (AP; EC 3." | ( Caswell, AM; Macfarlane, JD; Poorthuis, BJ; Russell, RG; van de Kamp, JJ, 1988) |
| "Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity." | ( Cole, DE; Harris, H; Lafferty, MA; Mulivor, RA; Ray, K; Weiss, MJ; Whyte, MP, 1988) |
| ""Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of alkaline phosphatase (ALP) (TNSALP)." | ( Coburn, SP; Cole, FS; Fedde, KN; Mahuren, JD; McCabe, ER; Whyte, MP, 1988) |
| "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." | ( Milne, JK; Mohyuddin, F; Mueller, HD; Stinson, RA, 1983) |
| "Hypophosphatasia is a rare inherited disease, the 1st clinical sign of which is often a premature loss of deciduous teeth." | ( Caliebe, A; Kocher, T; Kuhrau, N; Plagmann, HC, 1994) |
| "Hypophosphatasia is rare enzymopathy that normally presents within the first few years of life and often has profound effects upon the periodontium." | ( Chapple, IL, 1993) |
| "Hypophosphatasia is a congenital disease characterized by defective bone mineralization, deficiency of alkaline phosphatase (ALP) activity, increased excretion of the phosphoethanolamine (PEA) in the urine, and premature loss of the deciduous teeth." | ( Ishikawa, I; Seki, T; Umeda, M; Watanabe, H, 1993) |
| "Hypophosphatasia is associated with a defect of the tissue-non-specific alkaline phosphatase gene." | ( Cai, G; Michigami, T; Nakajima, S; Nakayama, M; Okada, S; Ozono, K; Sakai, N; Satomura, K; Yamagata, M; Yasui, N, 1996) |
| "1." | ( Brain, A; Holland, S; Iqbal, SJ; Penny, M; Reynolds, TM, 1998) |
| "Hypophosphatasia is a rare disorder characterised by low levels of serum alkaline phosphatase activity resulting in abnormal phosphorylated metabolites and varying skeletal abnormality." | ( Iqbal, SJ, 1998) |
| "Hypophosphatasia is a rare heritable inborn error of metabolism characterized by abnormal bone mineralization associated with a deficiency of alkaline phosphatase." | ( Hoshino, Y; Iwamoto, S; Kajii, E; Sugimoto, N, 1998) |
| "Hypophosphatasia is associated with a defect of the tissue-nonspecific alkaline phosphatase (TNSALP) gene." | ( Cai, G; Michigami, T; Mushiake, S; Nakajima, S; Okada, S; Ozono, K; Satomura, K; Shima, M; Yamagata, M; Yamamoto, T; Yasui, N, 1998) |
| "Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/ bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity." | ( Bird, L; Boute, O; Brenner, R; Cousin, J; Gaillard, D; Heidemann, PH; Mornet, E; Muller, F; Serre, JL; Simon-Bouy, B; Steinmann, B; Taillandier, A; Wallot, M; Zurutuza, L, 1999) |
| "Hypophosphatasia is a rare disease characterized by low serum levels of tissue non-specific alkaline phosphatase (TNSALP) and a spectrum of skeletal disease varying from the severest form with death in utero to mild with no clinical abnormality in adults." | ( Dalgleish, R; Iqbal, SJ; Linforth, GH; Plaha, DS, 1999) |
| "Hypophosphatasia is an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) and skeletal disease due to impaired mineralization of cartilage and bone matrix." | ( Blair, L; Coburn, SP; Fedde, KN; MacGregor, GR; Millán, JL; Narisawa, S; Ryan, LM; Silverstein, J; Waymire, K; Weinstein, RS; Whyte, MP, 1999) |
| "Because perinatal hypophosphatasia is a fatal condition and inherited as an autosomal recessive pattern, prenatal diagnosis is necessary." | ( Chanvitan, P; Jaruratanasirikul, S, 1999) |
| "Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity." | ( Bieth, E; Bonnin, E; Brenner, R; Cordier, MP; Cozien, E; De Bie, S; Fellmann, F; Freisinger, P; Fribourg, C; Hennekam, RC; Hesse, V; Josifova, D; Kerzin-Storrar, L; Leporrier, N; Merrien, Y; Mornet, E; Muller, F; Serre, JL; Simon-Bouy, B; Taillandier, A; Zabot, MT, 2000) |
| "Hypophosphatasia is characterized by the hypomineralization of bone associated with the mutation of the tissue-nonspecific alkaline phosphatase (TNSALP) gene." | ( Kageyama, T; Michigami, T; Müller, HL; Ozono, K; Schneider, P; Schönau, E; Yamazaki, M, 2000) |
| "Hypophosphatasia is a rare bone disorder characterised by low levels of tissue non-specific alkaline phosphatase (TNSALP)." | ( Davies, T; Holland, S; Iqbal, SJ; Madira, W; Whitaker, P, 2000) |
| "Hypophosphatasia is an inborn error of metabolism caused by a deficiency of liver-, bone- or kidney-type alkaline phosphatase due to mutations in the tissue-nonspecific alkaline phosphatase (ALPL) gene." | ( Mornet, E, 2000) |
| "Hypophosphatasia is an inherited disease characterised by low tissue non-specific alkaline phosphatase (TNSALP) levels and skeletal defects." | ( Chapman, C; Cole, R; Davies, T; Iqbal, SJ; Whitaker, P, 2000) |
| "Hypophosphatasia is an hereditary disease characterized by low activity of total serum alkaline phosphatase (TALP) accompanied by a range of skeletal diseases." | ( Davies, T; Holland, S; Iqbal, SJ; Manning, T; Whittaker, P, 2000) |
| "Hypophosphatasia is an inborn metabolic disorder in which abnormally low levels of the enzyme nonspecific alkaline phosphatase result in defective skeletal and dental mineralization (rickets, fractures, dental abnormalities) and in accumulation of the enzyme substrates (phosphoethanolamine, pyridoxal-5'phosphate and inorganic pyrophosphate)." | ( Fellmann, F; Jeannin-Louys, L; Kremer, P; Mornet, E; Toussirot, E; Wendling, D, 2001) |
| "Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity." | ( Bera-Louville, A; Bonduelle, M; Eckhardt, J; Gaillard, D; Körtge-Jung, S; Larget-Piet, L; Lia-Baldini, AS; Malou, E; Mornet, E; Mouchard, M; Muller, F; Myhre, AG; Robin, B; Serre, JL; Sillence, D; Simon-Bouy, B; Taillandier, A; Temple, IK; Viot, G, 2001) |
| "Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity." | ( Aylsworth, AS; Bieth, E; Delanote, S; Freisinger, P; Gibrat, JF; Hu, JC; Krohn, HP; Lia-Baldini, AS; Mornet, E; Mouchard, M; Muller, F; Nunes, ME; Robin, B; Serre, JL; Simon-Bouy, B; Taillandier, A, 2001) |
| "Hypophosphatasia is a rare inborn error of metabolism characterised by defective bone mineralisation caused by a deficiency of liver-, bone- or kidney-type alkaline phosphatase due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene." | ( Hérasse, M; Mornet, E; Spentchian, M; Taillandier, A, 2002) |
| "Hypophosphatasia is a rare autosomal recessive inborn error of metabolism characterized by a defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activity." | ( Alembik, Y; Fischbach, M; Mornet, E; Stoll, C; Terzic, J; Vuillemin, MO, 2002) |
| "Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity." | ( Dobbie, Z; Gläser, D; Herasse, M; Holder, SE; Ivarsson, SA; Kostiner, D; Mansour, S; Merrien, Y; Mornet, E; Norman, A; Roth, J; Serre, JL; Simon-Bouy, B; Spentchian, M; Stipoljev, F; Taillandier, A; Taillemite, JL; van der Smagt, JJ, 2003) |
| "Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of tissue nonspecific alkaline phosphatase (TNSALP) activity." | ( Kanazawa, N; Koike, K; Koyama, K; Mornet, E; Sawai, H; Tsukahara, Y; Udagawa, H, 2003) |
| "Hypophosphatasia is characterized by defective bone mineralization associated with impaired activity of the tissue non-specific alkaline phosphatase (TNSALP) due to mutations in the TNSALP gene." | ( Draguet, C; Gillerot, Y; Mornet, E, 2004) |
| "Hypophosphatasia is suspected in a child with rickets and premature loss of decideous teeth." | ( Draguet, C; Gillerot, Y; Mornet, E, 2004) |
| "Hypophosphatasia is a rare heritable inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase defective bone mineralization due to mutations in the tissue-non-specific alkaline phosphatase (TNS-ALP) gene." | ( Fryns, JP; Moerman, P; Mornet, E; Witters, I, 2004) |
| "Hypophosphatasia is an inherited disorder due to mutations in the bone alkaline phosphatase (ALPL) gene." | ( Brun-Heath, I; De Mazancourt, P; Mornet, E; Sallinen, SL; Serre, JL; Taillandier, A, 2005) |
| "Hypophosphatasia is an inherited disorder caused by mutations in the bone alkaline phosphatase gene." | ( Brun-Heath, I; Mornet, E; Serre, JL; Taillandier, A, 2005) |
| "Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity." | ( Chou, YY; Lin, SJ; Ou, HY; Tsai, SC; Wu, TJ; Yu, EH, 2005) |
| "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." | ( Meli, C; Palazzo, P; Romeo, DM; Smilari, P; Sorge, G, 2005) |
| "Hypophosphatasia is caused by deficiency of activity of the tissue-nonspecific alkaline phosphatase (TNSALP), resulting in a defect of bone mineralization." | ( Cahill, R; Gottesman, GS; Grubb, JH; Gutierrez, MA; Kanai, R; Kobayashi, H; Lopez, PL; Miyamoto, K; Nishioka, T; Noguchi, A; Sly, WS; Tomatsu, S; Trandafirescu, GG; Yamaguchi, S, 2006) |
| "Hypophosphatasia is an osseous dysplasia with highly variable clinical expression, ranging from a recessive lethal prenatal type to late onset dominant short stature with premature shedding of teeth." | ( Blondeau, JR; Encha-Razavi, F; Gerard-Blanluet, M; Le Merrer, M; Levaillant, JM; Mornet, E; Sinico, M; Vergnaud, A, 2007) |
| "Hypophosphatasia is a rare inherited bone disorder characterized by defective bone and dental mineralization and deficiency of serum and liver/bone/kidney alkaline phosphatase activity." | ( Brun-Heath, I; Carvalho, F; Fauvert, D; Grochova, I; Mehta, SG; Mornet, E; Müller, G; Oberstein, SL; Ogur, G; Serre, JL; Sharif, S; Simon-Bouy, B; Spentchian, M; Taillandier, A, 2006) |
| "Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity." | ( Miyake, H; Orimo, H; Shimada, T; Shinagawa, T; Suzuki, Y; Takeshita, T; Watanabe, A; Yamamasu, S, 2007) |
| "Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity." | ( Ben Farhat, L; Ben Hariz, M; Ben M'barek, S; Briki, S; Halioui-Louhaïchi, S; Hendaoui, L; Maherzi, A; Mornet, E, 2007) |
| "The diagnosis of hypophosphatasia is strongly suspected in front of Reduced serum alkaline phosphatase activity and confirmed by the genetic study." | ( Ben Farhat, L; Ben Hariz, M; Ben M'barek, S; Briki, S; Halioui-Louhaïchi, S; Hendaoui, L; Maherzi, A; Mornet, E, 2007) |
| "Hypophosphatasia is a congenital disorder of bone development due to defect of tissue-nonspecific alkaline phosphatase (ALP), characterized by hypomineralization of skeleton and rachitic change of bone." | ( Ozono, K, 2007) |
| "Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity." | ( Mornet, E, 2007) |
| "Hypophosphatasia is a rare inherited bone disease caused by mutations in the alkaline phosphatase liver-type gene (ALPL) gene, with extensive allelic heterogeneity leading to a range of clinical phenotypes." | ( Brun-Heath, I; Chabrol, E; De Mazancourt, P; Drexler, K; Fox, M; Mornet, E; Petit, C; Serre, JL; Taillandier, A, 2008) |
| "Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum." | ( Amling, M; Barvencik, F; Gebauer, M; Schinke, T, 2008) |
| "Hypophosphatasia is a rare inherited disorder characterized by defective bone and tooth mineralization, and deficiency of serum and bone alkaline phosphatase activity." | ( Mornet, E, 2008) |
| "Hypophosphatasia is an inheritable disorder characterised by defective bone mineralisation due to the impaired activity of tissue-non-specific alkaline phosphatase (AP)." | ( Baunin, C; Bieth, E; Dalicieux-Laurencin, S; De Gauzy, JS; Gennero, I; Mornet, E; Moulin, P; Salles, JP; Tauber, MT; Vaysse, F, 2009) |
| "Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP)." | ( Barić, I; Begović, D; Fumić, K; Mornet, E; Petković Ramadza, D; Potocki, K; Sarnavka, V; Stipoljev, F, 2009) |
| "Hypophosphatasia is an inherited systemic bone disease characterized by hypomineralization of hard tissues." | ( Orimo, H, 2010) |
| "Hypophosphatasia is caused by mutations of the tissue-non-specific alkaline phosphatase (TNSALP) gene with deficiency of dentin structure." | ( Gan, Y; Ge, L; Lei, H; Li, J; Liu, H; Zhu, T, 2010) |
| "Hypophosphatasia is characterized by deficiency of serum alkaline phosphatase with defective bone and teeth mineralization." | ( Chiarelli, F; de Giorgis, T; De Leonibus, C; Mohn, A; Mornet, E, 2011) |
| "Hypophosphatasia is a rare inherited disorder characterized by poor bone mineralization and deficiency of alkaline phosphatase activity." | ( Chang, KC; Chen, CY; Chou, HC; Hsieh, WS; Lee, NC; Lin, PH; Peng, SS; Su, YN; Tsao, PN, 2012) |
| "Hypophosphatasia is a rare hereditary metabolic disorder accompanying deficit of tissue nonspecific serum alkaline phosphatase." | ( Chandoga, I; Chandoga, J; Futas, J; Petrovic, R, 2011) |
| "Hypophosphatasia is a rare inherited disorder characterized by a low serum alkaline phosphatase (ALP) activity and defective bone mineralization." | ( Fujiwara, T; Fukushi, J; Iida, K; Iwamoto, Y; Oda, Y, 2012) |
| "Hypophosphatasia is a genetic disorder characterized by defective bone and tooth mineralization and a deficiency of serum and bone alkaline phosphatase activity." | ( Gu, JM; Hu, WW; Ke, YH; Wang, C; Yue, H; Zhang, H; Zhang, ZL, 2012) |
| "Hypophosphatasia is a rare autosomal recessive disorder caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP) and characterized by defective bone mineralization." | ( Bober, MB; Chidekel, A; Davey, L; Li Puma, AB; Rodriguez, E; Shaffer, TH; Zamora, A, 2012) |
| "Hypophosphatasia is caused by abnormal tissue-nonspecific alkaline phosphatase (ALP), leading to impaired calcification in bone." | ( Ozono, K, 2014) |
| "Hypophosphatasia is an inborn error of metabolism caused by mutations in the ALPL gene." | ( Collins, JF; Cundy, T; Dray, M; Fratzl-Zelman, N; Gamsjaeger, S; Klaushofer, K; Michigami, T; Paschalis, EP; Roschger, A; Roschger, P; Tachikawa, K, 2015) |
| "Hypophosphatasia is a genetic disorder, characterised by a dysfunctional tissue-non-specific isoenzyme of alkaline phosphatase that impacts bone metabolism and predisposes to osteomalacia or rickets." | ( Belkhouribchia, J; Bravenboer, B; Meuwissen, M; Velkeniers, B, 2016) |
| "Hypophosphatasia is the inborn error of metabolism characterized by low serum alkaline phosphatase activity (hypophosphatasaemia)." | ( Whyte, MP, 2016) |
| "Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney." | ( Biosse-Duplan, M; Linglart, A, 2016) |
| "Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene." | ( Bircan, İ; Çelmeli, G; Güzel Nur, B; Manguoğlu, E; Mıhçı, E; Soyucen, E, 2016) |
| "Hypophosphatasia is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase activity." | ( Cho, H; Cho, SY; Huh, R; Jin, DK; Ki, CS; Kim, J; Kim, OH; Lee, J; Park, EG, 2016) |
| "Hypophosphatasia is a rare inherited disease derived from mutations in tissue non-specific alkaline phosphatase genes, with typical oral symptoms including short root anomaly and dysplasia of dentin or cementum." | ( Qiao, W; Su, YX; Wang, ZY; Zhang, K; Zheng, GS, 2016) |
| "Hypophosphatasia is caused by ALPL gene mutation, and ALPL gene detection is an effective diagnostic method." | ( Dewan, RK; Lan, D; Li, DF; Xie, YS; Yang, Y; Zhong, JZ, 2017) |
| "Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity, due to loss-of-function mutations within the gene for tissuenonspecific isoenzyme of alkaline phosphatase [TNSALP]." | ( Gurevich, E; Landau, D, 2017) |
| "Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity." | ( Franco, AS; Freitas, TQ; Pereira, RMR, 2018) |
| "Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP)." | ( Galeano-Valle, F; Galindo, RJ; Vengoechea, J, 2019) |
| "Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism due to loss of function mutations in the tissue non-specific alkaline phosphatase (ALPL) gene causing reductions in the activity of the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP)." | ( Greenberg, CR; Josse, R; Kannu, P; Khan, AA; Paul, T; Van Uum, S; Villeneuve, J, 2019) |
| "Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL." | ( Fujiwara, M; Fukushima, K; Kawai-Kowase, K; Kubota, T; Ozono, K; Sato, H; Sato, M; Tamura, J; Yonemoto, Y, 2019) |
| "Hypophosphatasia is a rare bone disease characterized by impaired bone mineralization and low alkaline phosphatase activity." | ( Fujisawa, Y; Kitaoka, T; Nakashima, S; Ogata, T; Ono, H; Ozono, K, 2020) |
| "Hypophosphatasia is caused by mutations in the ALPL gene, which encodes the tissue non-specific form of alkaline phosphatase." | ( Alai-Towfigh, H; Lee, VHK; Long, C; Rockman-Greenberg, C; Schroth, RJ, 2021) |
| "Hypophosphatasia is an uncommon condition with variable presentation, often resulting in a missed diagnosis." | ( Busch, RS; Kane, MP; Quinn, HB, 2021) |
| "Hypophosphatasia is a systemic bone disease characterized by inhibition of bone mineralization due to mutations in the ALPL gene that results in a deficiency of tissue nonspecific alkaline phosphatase." | ( Chinoy, A; Iruloh, C; Kerr, B; Mughal, MZ; Padidela, R, 2021) |
| "Hypophosphatasia is a rare genetic disorder of calcium and phosphate metabolism due to ALPL gene mutations, which leads to abnormal mineralization of the bones and teeth." | ( Adamsbaum, C; Di Rocco, F; Linglart, A; Mannes, I; Merzoug, V; Rothenbuhler, A, 2022) |
| "Hypophosphatasia is a rare genetic disease, which causes imbalances between B6 vitamers." | ( Andersen, ES; Brasen, CL; Rasmussen, M, 2023) |
| "Hypophosphatasia is a rare genetic disease, which causes imbalances between B6 vitamers." | ( Andersen, ES; Brasen, CL; Rasmussen, M, 2023) |