Results 121 to 130 of about 5,593 (209)

Atypical Fracture From Bisphosphonate Use in Hypophosphatasia With Improved Bone Response to Teriparatide Therapy. [PDF]

JCEM Case Rep
Mora Garzon E, Betancourt Zuluaga D, Salazar Ospina JD, López Velásquez S.   +3 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

Neonatal hypophosphatasia: a case report of a rare genetic disorder. [PDF]

BMC Pediatr
Vohra WI, Chohan N, Mirza A.
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

When the diagnosis misses the mark: The psychiatric cost of misdiagnosing hypophosphatasia as fibromyalgia. [PDF]

World J Clin Cases
Jetter EM, Lucke-Wold BP.
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

Impact of clinical symptoms on quality of life in adult hypophosphatasia: a monocentric study in northern Germany. [PDF]

JBMR Plus
Krüger RN, von Brackel FN, Vettorazzi E, Inhestern L, Oheim R, Amling M, Barvencik F.   +6 more
europepmc   +1 more source

Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology? [PDF]

J Transl Med
Martínez-Heredia L, González-Cejudo T, Andreo-López MC, Contreras-Bolívar V, García-Fontana C, García-Fontana B, Muñoz-Torres M.   +6 more
europepmc   +1 more source

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations. [PDF]

Hum Genome Var
Li W, Zeng S, Jiang J, Liu B.
europepmc   +1 more source

The Clinical Spectrum of Hypophosphatasia in Older Adults. [PDF]

Clin Case Rep
Valdez Navarro E, Wong EM, Tile L, Cheung AM.   +3 more
europepmc   +1 more source