Results 131 to 140 of about 1,523 (155)

Hypophosphatasia.

Pediatric endocrinology reviews : PER, 2013
Hypophosphatasia (HPP) is a rare, inherited, potentially life-threatening metabolic disorder that arises from loss-of-function mutations in the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). As a result of these mutations (as many as 260 genetic mutations have been associated with HPP), patients have disordered ...
openaire   +1 more source

Periodontal manifestation of hypophosphatasia. A family case report

Journal of Clinical Periodontology, 1994
Thomas Kocher, Almuth Caliebe, H C Plagmann   +2 more
exaly  

Five cases of hypophosphatasia with dental findings

International Journal of Oral Surgery, 1973
Åke Nordenram, A Nordenram
exaly  

Pulmonary Hypoplasia in Neonatal Hypophosphatasia

Pediatric Pathology, 1988
George Vilos, Meredith M Silver, M M Silver   +2 more
exaly  

Hypophosphatasia affecting the permanent dentition

Journal of Oral Pathology and Medicine, 1996
Lars Matsson, Bengt Sjodin, L Matsson
exaly  

Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys

Metabolism: Clinical and Experimental, 2016
Priya S Kishnani, Scott Moseley
exaly  

Hypophosphatasia: dental aspects and mode of inheritance

Journal of Clinical Periodontology, 1993
Iain Chapple
exaly  

Early prenatal diagnosis of congenital hypophosphatasia: Case report

Prenatal Diagnosis, 1985
M F Niermeijer, W Blom, J G M Huijmans
exaly  

A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Annals of Human Genetics, 2011
Etienne Mornet, Brigitte Simon-Bouy, Agnes Taillandier   +2 more
exaly  

Postnatal Pancraniosynostosis in a Patient with Infantile Hypophosphatasia

Cleft Palate-Craniofacial Journal, 2016
Jerry Vockley, Beth Kaminski, Warren Selman   +2 more
exaly