Results 111 to 120 of about 2,723,375 (158)

Infantile hypophosphatasia caused by compound heterozygous variants in the <i>ALPL</i> gene: a case report. [PDF]

Am J Transl Res
Wu Q, Xiang M, Xiong W, Wang B, Wu S, Chen M.   +5 more
europepmc   +1 more source

Hypophosphatasia: 90 Years from a Canadian Discovery-A Comprehensive Review of the <i>ALPL</i> Gene Underlying Rathbun's Syndrome. [PDF]

Genes (Basel)
Sergi CM.
europepmc   +1 more source

A novel missense mutation in the ALPL gene causes dysfunction of the protein. [PDF]

Mol Med Rep, 2017
Chen B, Li L, Ren W, Yi L, Wang Y, Yan F.   +5 more
europepmc   +1 more source

Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test. [PDF]

Int J Mol Sci
Pushkov AA, Zhanin IS, Chudakova DA, Rusakova AA, Demianov DS, Pakhomov AV, Koroleva VB, Koshevaya YS, Burlachenko AS, Eismont YA, Glotov OS, Fisenko AP, Savostyanov KV.   +12 more
europepmc   +1 more source

Creation and characterization of novel knock-in mouse models of hypophosphatasia. [PDF]

JBMR Plus
Okawa R, Ochiai M, Kurosaka H, Kadota T, Takagi M, Suehiro Y, Okawa H, Naka S, Yamaguchi S, Horike SI, Daikoku T, Watanabe A, Matsumoto-Nakano M, Imazato S, Michigami T, Ozono K, Yamashiro T, Nakano K.   +17 more
europepmc   +1 more source

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. [PDF]

J Clin Res Pediatr Endocrinol, 2016
Güzel Nur B, Çelmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mıhçı E.   +5 more
europepmc   +1 more source

Preoperative Serum Alkaline Phosphatase Predicts Arteriovenous Fistula Maturation Failure. [PDF]

Kidney Int Rep
Si T, Yu H, Shen Z, Chen G, Shi Z, Wu S, Ma S, Ren B, Gu H, Hu D, Li C.   +10 more
europepmc   +1 more source

Air Pollution-Associated Intracellular Metals, Immune Gene Expression, and Erythrocyte Indices in COPD with Anemia. [PDF]

Int J Chron Obstruct Pulmon Dis
Dinh CT, Chang JH, Chen TT, Lai CH, Chen KY, Feng PH, Lee KY, Tseng CH, Tran HM, Yuan TH, Ho SC, Wu SM, Chuang HC.   +12 more
europepmc   +1 more source

Integrative Machine Learning and Single-Cell RNA Sequencing Reveals Timp1+ Stromal Cells as Key Drivers in Ulcerative Colitis. [PDF]

J Inflamm Res
Xu X, Du L, Li Z, Jia X, Du Y, Yang Q, Cai Y.   +6 more
europepmc   +1 more source