Alkaline phosphatase isoenzymes and clinical features in hypophosphatasia [PDF]
, 2000 S. J. Iqbal +4 more
openalex +1 more source
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections [PDF]
, 2003 Bamiou, DE +11 more
core +2 more sources
Mutational Analysis and Functional Correlation With Phenotype in German Patients With Childhood-Type Hypophosphatasia [PDF]
, 2001 Hideo Orimo +5 more
openalex +1 more source
The biochemistry of mineralizing extracellular vesicles. Part I: The role of phosphatases [PDF]
In this chapter, we will review some of the information regarding the functional significance of the inorganic phosphate (Pi)/pyrophosphate (PPi) ratio for physiological mineralization of hard tissues.
Amadeu De Oliveira, Flavia +10 more
core +1 more source
Historical Vignette: Hypophosphatasia: Molecular Diagnosis of Rathbun's Original Case [PDF]
, 2001 Steven Mumm +3 more
openalex +1 more source
Regional odontodysplasia of the deciduous and permanent teeth associated with eruption disorders : a case report [PDF]
, 2008 Regional odontodysplasia (RO) is an unusual, non-hereditary anomaly of the dental hard tissues with characteristic clinical, radiographic and histological findings.
Gunhan, Omer +5 more
core
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients [PDF]
, 2002 Muriel Hérasse +3 more
openalex +1 more source
Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies [PDF]
, 2002 Athena P. Souka +4 more
openalex +1 more source
Enzyme-replacement therapy in life-threatening hypophosphatasia [PDF]
, 2012 et al, +2 more
core +2 more sources
Hypophosphatasia and the risk of atypical femur fractures: a case–control study [PDF]
, 2016 core +1 more source