Results 111 to 120 of about 3,700 (196)

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

Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report. [PDF]

Cureus
Nomura K, Oda Y, Yamaguchi S, Ito T, Namai Y.   +4 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

Hypophosphatasia [PDF]

, 2020
openaire   +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

Scoliosis in association with infantile hypophosphatasia - A case study in two siblings

Study Design. A case study of scoliosis in two siblings with infantile hypophosphatasia and review of literature are presented. Objectives. To report the rare occurrence of scoliosis in two siblings with infantile hypophosphatasia and detail problems in ...
Khazim R, Arun R, Webb JK, Burn J
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