Results 101 to 110 of about 5,593 (209)

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage

Children
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura   +9 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

Polish Journal of Pathology, 2016
Lethal skeletal disorders represent a heterogeneous and clinically variable group of genetic conditions, usually difficult to diagnose without post-mortem radiological assessment.
Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer   +6 more
doaj   +1 more source

Outlook Magazine, Spring 2012 [PDF]

, 2012
https://digitalcommons.wustl.edu/outlook/1186/thumbnail ...

core   +1 more source

Focal Spot, Spring/Summer 2010 [PDF]

, 2010
https://digitalcommons.wustl.edu/focal_spot_archives/1114/thumbnail ...

core   +1 more source

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia

Frontiers in Cell and Developmental Biology
IntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier, Jana Schiffmaier, Sofia Rehling, Sofia Rehling, Katharina Marnet, Katharina Marnet, Angela Borst, Drenka Trivanović, Drenka Trivanović, Drenka Trivanović, Denitsa Docheva, Franz Jakob, Stephanie Graser, Marietta Herrmann, Daniel Liedtke   +14 more
doaj   +1 more source

Imaging of the Wormian bones using microcomputed tomography [PDF]

, 2013
Wormian bones are irregular ossicles of small size and reveal fractal pattern of their edges. Their anatomy was visualized in volumetric reconstructions obtained from a series of micro-CT scans.
Kozerska, Magdalena, Leszczyński, Bartosz, Skrzat, Janusz, Walocha, Jerzy, Wróbel, Andrzej   +4 more
core  

From notochord to vertebral column: studies on Atlantic salmon (Salmo salar L.) [PDF]

, 2007
The notochord initially form a single-cell file stage of chordoblasts covered by a three layered sheath comprising a basal lamina, a main collagenous layer and an external elastic membrane.
Nordvik, Kari
core  

Adult hypophosphatasia presenting with recurrent acute joint pain

Endocrinology, Diabetes & Metabolism Case Reports
Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in
Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto   +11 more
doaj   +1 more source

Osteoporosis in young adults: pathophysiology, diagnosis, and management [PDF]

, 2018
Postmenopausal osteoporosis is mainly caused by increased bone remodeling resulting from estrogen deficiency. Indications for treatment are based on low areal bone mineral density (aBMD, T-score ≤ −2.5), typical fragility fractures (spine or hip), and ...
Adami, S., Bianchi, M., de Vernejoul, M.-C, Eisman, J., Ferrari, S., Foldes, A., Kaufman, J.-M, Stepan, J., Wahl, D.   +8 more
core  

Tissue Nonspecific Alkaline Phosphatase (TNAP) Regulates Cranial Base Growth and Synchondrosis Maturation [PDF]

, 2017
Hwa K. Nam, Jin Liu, Monika Sharma, Nan E. Hatch   +3 more
core   +1 more source