Results 81 to 90 of about 1,523 (155)

Childhood hypophosphatasia with homozygous mutation of ALPL

, 2014
To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia. Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented. A 13-
Ganapathy, Shankar Srinivas, Berkovitz, Gary, Haidet, Jaime, Ukarapong, Supamit   +3 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

Childhood hypophosphatasia with myopathy: clinical report with recent update [PDF]

, 2012
Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity (TNSALP), due to ALPL gene mutation. There are 6 clinical forms.
Silva, I, Castelão, Walter, Branco, Jaime, Mateus, M   +3 more
core  

A case of perinatal lethal form of hypophosphatasia; and review of literatures

, 2006
Hypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia.
Chu, JWY, Lam, CW, Tang, MHY, Lam, STS, Lam, ACF   +4 more
core  

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

Bilateral Transverse (Bowdler) Fibular Spurs with Hypophosphatasia in an Adolescent Girl

, 2005
Hypophosphatasia is a clinically heterogeneous inheritable disorder characterized by defective bone mineralization and the deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activities.
Atalar, HAKAN, Uras, I, Karadag, A, Uras, N, Yavuz, OY, Ismail Uras, Hakan Atalar, Nurdan Uras, Ahmet Karadag, Osman Yuksel Yavuz   +9 more
core   +1 more source

Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications

Hypophosphatasia is a rare genetic disease characterized by abnormal alkaline phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is well known in pediatrics with typical presentations in children, but mild forms can ...
Elisa Docampo, Bernard Otto, Christian Von Frenckell, Clio Ribbens, Olivier Malaise, Florence Lehane, Ribbens, Clio, Docampo Martínez, Elisa, Von Frenckell, Christian, OTTO, Bernard, Malaise, Olivier, Lehane, Florence   +11 more
core   +1 more source

A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities:Lessons Learned from Laboratory Screening for Hypophosphatasia

, 2016
OBJECTIVES: To explore the role of laboratory screening for hypophosphatasia and propose a diagnostic pathway for children with low serum alkaline phosphatase (ALP) activities.STUDY DESIGN: A retrospective hospital-based study over an 8-year period was ...
Lawson, Alexander J, Saraff, Vrinda, Preece, Mary Anne, Narayanan, Vidya K, Shaw, Nicholas J, Hoegler, Wolfgang   +5 more
core   +1 more source

Additional file 2: of Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview

, 2019
Hypophosphatasia Impact Patient Survey (HIPS).
Eric Rush (7257086), Anna Petryk (6636920), Scott Moseley (7257089)   +2 more
core   +1 more source