Results 101 to 110 of about 1,777 (209)

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

BMC Pediatrics, 2007
Background Hypophosphatasia (HP) is characterized by a genetic defect in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and predominantly an autosomal recessive trait. HP patients suffer from reduced bone mineralization.
Warmuth-Metz Monika, Beer Meinrad, Mornet Etienne, Girschick Hermann J, Schneider Peter   +4 more
doaj   +1 more source

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach [PDF]

, 2016
Lethal skeletal disorders represent a heterogeneous and clinically variable group of genetic conditions, usually difficult to diagnose without post-mortem radiological assessment.
Jamsheer, A., Karczewski, M., Mundlos, S., Olech, E., Robinson, P., Sowinska-Seidler, A., Zemojtel, T.   +6 more
core   +2 more sources

Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa [PDF]

Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP).
Demirdas, Serwet, Plooij, Roel, Timmermans, Remco G.M., van Velsen, Evert F.S., Zervou, Zografia, Zillikens, M. Carola   +5 more
core   +4 more sources

Pediatric Hypercalcemia: Insights into Clinical Features and Etiologies From a Tertiary Center

Güncel Pediatri
Introduction: Hypercalcemia is rarer in children than in adults, but it is clinically significant. Materials and Methods: This retrospective study evaluated 21 patients aged 0-18 years with hypercalcemia.
Emel Hatun Aytaç Kaplan, Zümrüt Kocabey Sütçü   +1 more
doaj   +1 more source

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

BMC Musculoskeletal Disorders, 2019
Background Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation(s) within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP).
Wolfgang Högler, Craig Langman, Hugo Gomes da Silva, Shona Fang, Agnès Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, Priya S. Kishnani   +9 more
doaj   +1 more source

Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency [PDF]

, 2017
Hypophosphatasia (HPP) is an inherited systemic bone disease caused by the deficiency of tissue-nonspecific alkaline phosphatase (TNAP). HPP is classified into six forms and the symptoms of HPP vary depending on the form.
Orimo, Hideo
core   +2 more sources

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

JBMR Plus, 2019
The response to teriparatide has been described in very few cases of hypophosphatasia (HPP). In this cross‐sectional study, we report the prevalence of symptomatic bone marrow edema (BME) and fracture healing complications in a large cohort of childhood ...
Tobias Schmidt, Tim Rolvien, Carolin Linke, Nico Maximilian Jandl, Ralf Oheim, Michael Amling, Florian Barvencik   +6 more
doaj   +1 more source

Langerhans cell histiocytosis: current concepts in dentistry and case report [PDF]

, 2016
Langerhans cell histiocytosis (LCH), which is a rare granulomatous pediatric disease of unknown etiology, is characterized by the idiopathic proliferation and accumulation of abnormal and clonal Langerhans cells or their ...
Alejo-Gonzalez, Francisco, Garrocho Rangel, Arturo, Pozos Guillén, Amaury de Jesús, Ramos-Gutierrez, Efraín, Ruiz Rodríguez, Socorro   +4 more
core  

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene [PDF]

, 2019
Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process.
Andujar Vera, Francisco, de Haro, Tomas, García Fontana, Beatriz, García Fontana, Cristina, González Salvatierra, Sheila, Gómez Vida, José María, Martínez Navajas, Gonzalo, Muñoz Torres, Manuel Eduardo, Real, Pedro J., Villa Suárez, Juan M.   +9 more
core   +3 more sources

Pathophysiology of hypophosphatasia and the potential role of asfotase alfa

Therapeutics and Clinical Risk Management, 2016
Hideo Orimo Division of Metabolism and Nutrition, Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan Abstract: Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone ...
Orimo H
doaj