Results 31 to 40 of about 5,593 (209)

Az alacsony alkalikusfoszfatáz-aktivitás klinikai értékelése és differenciáldiagnosztikája [PDF]

, 2017
Laboratory diagnostics is especially important in the diagnosis of certain diseases. We compared manual measurements results to laboratory normal values. In some cases, these values depend on the gender and age as well.
Fodor, Anna, Kenesei, Éva, Szabó, Attila   +2 more
core   +2 more sources

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

Bone Reports, 2016
Introduction: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation.
Mari Mori, Stephanie L. DeArmey, Thomas J. Weber, Priya S. Kishnani   +3 more
doaj   +1 more source

Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets‐Like Rib Fractures: A Case Report [PDF]

Clin Case Rep
ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Parviz S, Hooshyar D.
europepmc   +2 more sources

Functional involvement of PHOSPHO1 in matrix vesicle-mediated skeletal mineralization [PDF]

, 2007
UNLABELLED: PHOSPHO1 is a phosphatase highly expressed in bone. We studied its functional involvement in mineralization through the use of novel small molecule inhibitors.
Ali, Anderson, Anderson, Anderson, Anderson, Anderson, Anderson, Anderson, Baykov, Bernard, Cecil, Colin Farquharson, Dympna Harmey, Fallon, Fawzi, Garimella, Gomez, Harmey, Harmey, Hatch, Hessle, Ho, Houston, Houston, Houston, Hoylaerts, Hsu, Hunter, Johnson, Johnson, José Luis Millán, Kanehisa, Kvam, Lanzafame, Majeska, McLean, Meyer, Miao, Montessuit, Montessuit, Morris, Moss, Murshed, Nagaya, Narisawa, Nurnberg, Pelech, Rezende, Roberts, Roberts, Robison, Schinke, Scott Roberts, Sodek, Sonoko Narisawa, Stewart, Stewart, Suzuki, Terkeltaub, Valhmu, Wang, Wang, Waymire, Whyte, Wu, Wu, Wu, Zelinski   +67 more
core   +1 more source

Childhood hypophosphatasia: to treat or not to treat

Orphanet Journal of Rare Diseases, 2018
Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the
Eric T. Rush
doaj   +1 more source

Hypophosphatasia: literature review and description of a clinical case of familial disease with molecular genetic verification of the diagnosis

Лечащий Врач, 2023
Hypophosphatasia is a rare hereditary disease characterized by a very diverse clinical manifestations that can make it difficult to make a timely diagnosis.
E. Yu. Belyashova, A. L. Frolenko, I. V. Zorin, A. P. Pakhomov   +3 more
doaj   +1 more source

Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation [PDF]

Neonatal Medicine, 2020
Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day.
Seung Jae Lee, Dong Won Lee, Won Duck Kim   +2 more
doaj   +1 more source

Development of Bone Targeting Drugs. [PDF]

, 2017
The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage
Alméciga-Díaz, Carlos J., Mackenzie, William G., Mason, Robert W., Orii, Tadao, Sawamoto, Kazuki, Stapleton, Molly, Tomatsu, Shunji   +6 more
core   +2 more sources

Transition of young adults with metabolic bone diseases to adult care

Frontiers in Endocrinology, 2023
As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan.
Jordan Ross, Michelle R. Bowden, Michelle R. Bowden, Christine Yu, Alicia Diaz-Thomas, Alicia Diaz-Thomas   +5 more
doaj   +1 more source

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. [PDF]

, 2017
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with
Agnès Linglart, ATS Statement, Baumgartner-Sigl, Bayley, Beck, Berkseth, Bianchi, Bishop, Bloch-Zupan, Brittain, Cahill, Camacho, Caswell, Centers for Disease Control and Prevention, Colantonio, Collmann, Craig F. Munns, Cundy, Daltroy, Deitz, Eberle, Eric T. Rush, Fedde, Fedde, Fleisch, Folio, Foster, Fraser, Goff, Guralnik, Hampole, Hofmann, Howard M. Saal, Hudson-Barr, International Society for Clinical Densitometry, Kathryn Dahir, Keiichi Ozono, Kozlowski, Laroche, Lawrence, Lessell, Linglart, Lothar Seefried, Lyders, Maman, Marcus, Mark E. Nunes, McCaffery, McDonald, McKiernan, Mori, Mornet, Mornet, Mornet, Mornet, Mornet, Mornet, Nick Bishop, Paul Arundel, Paul Harmatz, Pauli, Piper, Priya S. Kishnani, Reibel, Rockman-Greenberg, Russell, Russell, Russell, Scott, Seshia, Silva, Simmons, Singh, Stoll, Strensiq [Health Canada], Sutton, Taillandier, Taketani, Taketani, Taketani, van Reenen, Varni, Varni, Wang, Ware, Weber, Weiss, Wenkert, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, William Fraser, Wong   +98 more
core   +1 more source