Results 131 to 140 of about 9,342 (275)

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 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  

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

Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study [PDF]

, 2015
Objectives: The aim of the present study was to analyse the mineralization pattern of enamel and dentin in patients affected by X-linked hypophosphatemic rickets (XLHR) using micro-CT (µCT), and to associate enamel and dentin mineralization in primary ...
Costa, F. W. G., Fonteles, C. S. R., Ribeiro, T. R., Soares, E. C. S., Williams, J. R., Jr.   +4 more
core   +1 more source

Editorial Introduction: Advancing Pediatric Endocrinology Through Multidimensional Insights

Clinical Endocrinology, Volume 103, Issue 4, Page 427-428, October 2025.
Tony Huynh
wiley   +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

Genetic aspects of dental disorders [PDF]

, 1998
The document attached has been archived with permission from the Australian Dental Association. An external link to the publisher’s copy is included.This paper reviews past and present applications of quantitative and molecular genetics to dental ...
Aldred MJ, Arte S., Barnett ML., Bartold PM., Baum BJ, Beaty TH, Blackwell CC, Boraas JC, Boughman JA, Boughman JA, Boughman JA, Brown T., Byers PH, Cawson RA., Cheverud JM, Chung C., Chung CS, Chung CS, Chung CS, Conneally PM, Crall MG, Crosby AH, Crowley CA, Delgado WA, Dempsey PJ, Deutsch D., DeVries RR, Elston RC., Finn SB., Fisher RA., Gedda L., George A., Goodman HO, Gorlin RJ, Hart TC., Hassell TM, Hattab FN, Houwink B., Hunt HR, Hunt HR, Hunter WS., Kaslick RS, Katz J., King L., Kirstilia V., Lagerstrom M., Laine T., Lauweryns I., Lauweryns I., Leknes KN, Lundstrom A., MacDougall M., Marazita ML, Marazita ML, Markovic MD., Michalewicz BS., Michalowicz BS, Moller E., Moss ML., Peltomaki T., Potter RH., Potter RH., Proffit WR., Reinholdt J., Roulsten D., Shapira L., Slavkin HC., Smith RJ, Takashiba S., Townsend GC, Townsend GC, Townsend GC, Townsend GC, Towsend G., Varrela J., White R., Whitney C., Willett NP, Wynne SE, Zambon JJ, Zambon JJ   +80 more
core   +1 more source

Focal Spot, Spring/Summer 2010 [PDF]

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

core   +1 more source

Regional odontodysplasia of the deciduous and permanent teeth associated with eruption disorders : a case report [PDF]

, 2008
Regional odontodysplasia (RO) is an unusual, non-hereditary anomaly of the dental hard tissues with characteristic clinical, radiographic and histological findings.
Gunhan, Omer, Gündüz, Kaan, Kurt, Murat, Zengin, Zeynep, Çelenk, Peruze, Özden, Bora   +5 more
core  

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