Results 81 to 90 of about 3,700 (196)

Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

, 2023
Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific alkaline phosphatase.
Steve Sims, Tony Yuen, Funda Korkmaz, Mone Zaidi, Se-Min Kim, Vitaly Ryu   +5 more
core   +1 more source

Neonatal form of hypophosphatasia. A case report

The Turkish Journal of Pediatrics, 1995
Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities.
G Tekinalp, B Gürakan, S Yalçin, M Cağlar, H Ergin   +4 more
doaj  

Decade-long delayed diagnosis of hypophosphatasia until next generation tooth loss: case reports on dental rehabilitation, diagnostic challenges and clinical implications

Frontiers in Oral Health
Hypophosphatasia (HPP) is a rare metabolic bone disorder caused by functional mutations in the gene Alkaline Phosphatase, Liver/Bone/Kidney (ALPL), resulting in impaired mineralization of bones and teeth.
Yating Cao, Feng Zhang, Xingxing Huang, Ai Jiang, Shaoyun Jiang, Min Wu   +5 more
doaj   +1 more source

Hypophosphatasia [PDF]

Skeletal Radiology, 2012
Haisong, Chen, Yan, Han, Xiaofei, Li, Xuejun, Liu, Weihua, Feng, Wenjian, Xu   +5 more
openaire   +2 more sources

Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Остеопороз и остеопатии, 2019
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients.
Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya   +5 more
doaj   +1 more source

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

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

, 2003
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity.
Spentchian, M, Gläser, D, Norman, A, Herasse, M, Ivarsson, Sten, Mansour, S, Taillemite, JL, Serre, JL, Mornet, E, Holder, S, Merrien, Y, Stipolev, F, Van Der Smagt, JJ, Dobbie, Z, Kostiner, D, Simon-Bouy, B, Taillandier, A, Roth, J   +17 more
core   +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

Abnormal skull findings in neural tube defects [PDF]

, 2009
The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical
Cacciatore , Alessandro, Carrara, Sabina, Rapisarda, Giulia, La Galia, Tindara, Recupero , Stefania, Mammaro, Alessia, Accardi, Manuela Chiara, Pedata, Rosa, Imbruglia, Laura, Pappalardo, Elisa Maria   +9 more
core  

Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

, 2016
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-
Ashwitha Guguloth, Yashant Aswani, Karan Manoj Anandpara   +2 more
core   +1 more source