Results 131 to 140 of about 13,848 (209)

7154 Adult Hypophosphatasia With Heterozygous Missense Mutations In ALPL Gene

Journal of the Endocrine Society
Abstract Disclosure: A.S. Chaugule: None. Y. Cervelo: None. S. Dhillon: None. D. Tuncay: None. We present a case of a male in his third decade of life discovered to be a carrier of the genetic mutation associated with hypophosphatasia during routine pre-conception genetic screening. Genetic analysis revealed a heterozygous
Chaugule, Akshata S, Cervelo, Yeset, Dhillon, Shabnam, Tuncay, Delibasi   +3 more
openaire   +1 more source

ALPL Gene [PDF]

, 2020
openaire   +1 more source

ALPL wt Allele [PDF]

, 2020
openaire   +1 more source

A case report of unsuccessful enzyme replacement therapy in perinatal hypophosphatasia: impact of comorbid tetralogy of Fallot, prematurity, and novel variants

Journal of Rare Diseases
Hypophosphatasia (HPP) is a rare inborn error of metabolism characterized by defective bone mineralization due to alkaline phosphatase (ALP) deficiency encoded by the gene ALPL (Orphanet J Rare Dis 2:40, 2007), (Am J Med 22:730-746, 1957).
Tram Le, Bridget Fitzgerald, Michael Chomat, Jamie Sinton   +3 more
doaj   +1 more source

Estudio comparativo de características metabólicas del M. gluteus medius en equinos y bovinos

Revista Científica, 2010
Se hicieron comparaciones de las características metabólicas del M. gluteus medius de doce (12) caballos pura sangre y de cuarenta (40) vacas mestizas.
Noelina Hernández, Sonia Torres, Juan De Sanctis, Magdalena Pulido, Luis Sucre   +4 more
doaj  

Numerical simulation of one-dimensional heat transfer in composite bodies with phase change [PDF]

A numerical simulation was developed to investigate the one dimensional heat transfer occurring in a system composed of a layered aircraft blade having an ice deposit on its surface.
Baliga, G., Dewitt, K. J.
core   +1 more source

Neuronal alkaline phosphatase promotes the spread of Tau-induced pathology, and its blockade prevents neurodegeneration and memory loss. [PDF]

Neurotherapeutics
Soria-Tobar L, Ouro-Corredera D, Roman-Valero L, Hernández F, Millán JL, Álvarez-Castelao B, Sebastián-Serrano Á, Aivar P, Díaz-Hernández M.   +8 more
europepmc   +1 more source

Tissue Nonspecific Alkaline Phosphatase (TNAP) Regulates Cranial Base Growth and Synchondrosis Maturation [PDF]

, 2017
Hwa K. Nam, Jin Liu, Monika Sharma, Nan E. Hatch   +3 more
core   +1 more source

ALPL-1 Newtonian Ephemeris of the Planetary System Spanning 4000 years

, 1986
Numerical integration of the equations of motion of the Solar System Planets (except Mercury) is described. The continuous ephemeris obtained in result, spanning the time interval from 1918 BC to 2092 AD is presented.
Dybczyński, P. A., Jopek, Tadeusz
openaire   +1 more source

Role of Inositol Hexakisphosphate Kinases in Vascular Smooth Muscle Cell Calcification. [PDF]

Int J Mol Sci
Bahiraii S, Jannat I, Plösser S, Razazian M, Voelkl J, Alesutan I.   +5 more
europepmc   +1 more source