Results 151 to 160 of about 10,834 (202)

Neonatal hypophosphatasia: a case report of a rare genetic disorder

BMC Pediatrics
Background Neonatal Hypophosphatasia is a rare condition attributed to loss of function mutations in the ALPL gene, resulting in diminished activity of Tissue Non-Specific Alkaline Phosphatase (TNSALP).
Wasif Ilyas Vohra, Nimra Chohan, Adnan Mirza   +2 more
doaj   +1 more source

Hypophosphatasia and the risk of atypical femur fractures: a case–control study [PDF]

, 2016

core   +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

Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family

Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family
Introduction Hypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited in either an autosomal recessive or autosomal dominant manner. It is characterized clinically by defective mineralization of bone, dental problems, and low serum ALP levels.
openaire  

<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

Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. [PDF]

J Bone Miner Res
Dahir KM, Below JE, Liu J, Javid A, Wang G, Bastarache L.   +5 more
europepmc   +1 more source

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants. [PDF]

J Bone Miner Res
Montero-Lopez R, Farman MR, Högler F, Rehder C, Malli T, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Nading EB, Huggins E, Rush ET, Tauer JT, Kishnani PS, Högler W.   +18 more
europepmc   +1 more source

Hypophosphatasia-pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments. [PDF]

J Bone Miner Res
Millán JL.
europepmc   +1 more source

Knockdown of SLC41A1 magnesium transporter promotes mineralization and attenuates magnesium inhibition during osteogenesis of mesenchymal stromal cells [PDF]

, 2017

core   +1 more source

Neutrophil-related gene expression profile is associated with future paediatric bronchiectasis exacerbations. [PDF]

J Mol Med (Berl)
O'Farrell HE, Goyal V, Chang AB, Grimwood K, Cheng M, Yerkovich ST, Baines KJ.   +6 more
europepmc   +1 more source