Results 101 to 110 of about 3,700 (196)

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

[Ectopic calcifications in adult hypophosphatasia].

, 1983
The first case of hypophosphatasia in adults reported in Italy (20th in the world) is described with remarks on the epidemiology, pathogenesis and therapeutic possibilities.
N. Gentiloni, G. Coiana, FRUSTACI, ANDREA, F. Breccia   +3 more
core  

A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia. [PDF]

J Bone Miner Res
Seefried L, Bernholz J, Kraan M, Nitschke Y, Rutsch F, Mallek M, Kleinert S, Genest F.   +7 more
europepmc   +1 more source

Intrafamilial phenotypic variability in hypophosphatasia: evidence from two families and the literature. [PDF]

Front Endocrinol (Lausanne)
Sala E, Lanzafame R, Maruca K, Mora S, Pitea M.   +4 more
europepmc   +1 more source

Interpreting Low Alkaline Phosphatase in Fibromyalgia: The Importance of Comprehensive Clinical and Biochemical Assessment. [PDF]

Med Princ Pract
Rodríguez Araya T, Peris P.
europepmc   +1 more source

Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene

, 2009
Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP).
Mornet, Etienne, Begović, Davor, Kristina Potočki, Ivo Bari}, Danijela Petković Ramadža, Sarnavka, Vladimir, Davor Begovi}, Barić, Ivo, Danijela Petkovi}, Stipoljev, Feodora, Ksenija Fumi}, Petković Ramadža, Danijela, Ramad `, Davor Begović, Potočki, Kristina, Fumić, Ksenija, Feodora Stipoljev, Etienne Mornet, Ksenija Fumić, Vladimir Sarnavka, Kristina Poto~ki, Ivo Barić   +21 more
core  

Persistently Low Alkaline Phosphatase in Fibromyalgia: Hypophosphatasia or Confounding Clinical Context? [PDF]

Med Princ Pract
Harman H.
europepmc   +1 more source

<i>ALPL</i> Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins. [PDF]

Hum Mutat
Hao L, Huang N, Tao Y, Li H, Zhuang J, Li X, Hao Z, Zhao F.   +7 more
europepmc   +1 more source

Experiences with the use of asfotase alfa in three patients with childhood-onset hypophosphatasia. [PDF]

Endocrinol Diabetes Metab Case Rep
Pigliaru F, Noto D, Brandi ML.
europepmc   +1 more source

Congenital Hypophosphatasia [PDF]

Proceedings of the Royal Society of Medicine, 1955
openaire   +2 more sources