Results 181 to 190 of about 10,054 (208)

[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature.Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing.
Yan, Cui, Yingxian, Zhang, Dongxia, Fu, Xiaojing, Liu, Haiyan, Wei   +4 more
openaire   +1 more source

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients

Calcified Tissue International, 2019
Hypophosphatasia (HPP) is highly variable in clinical expression and is generally classified into six subtypes. Although it would be beneficial to be able to predict the clinical course from the ALPL genotype, studies on this issue are limited. Here, we aimed to clarify the features of Japanese HPP and the relationships between genotype and clinical ...
Toshimi, Michigami, Kanako, Tachikawa, Miwa, Yamazaki, Masanobu, Kawai, Takuo, Kubota, Keiichi, Ozono   +5 more
openaire   +2 more sources

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia

American Journal of Medical Genetics Part A, 2017
Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified. Disease severity is widely variable with severe forms usually manifesting during perinatal and/or infantile periods while ...
Tenorio, Jair, Álvarez, Ignacio, Riancho Zarrabeitia, Leyre, Martos Moreno, Gabriel Á., MANDRILE, Giorgia, de la Flor Crespo, Monserrat, Sukchev, Mikhail, Sherif, Mostafa, Kramer, Iza, Darnaude Ortiz, María T., Arias, Pedro, Gordo, Gema, Dapía, Irene, Martinez Villanueva, Julián, Gómez, Rubén, Iturzaeta, José Manuel, Otaify, Ghada, García Unzueta, Mayte, Rubinacci, Alessandro, Riancho, José A., Aglan, Mona, Temtamy, Samia, Hamid, Mohamed Abdel, Argente, Jesús, Ruiz Pérez, Víctor L., Heath, Karen E., Lapunzina, Pablo   +26 more
openaire   +2 more sources

A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia

Bone, 2017
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase,
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann   +3 more
openaire   +2 more sources

A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene

Journal of Pediatric Endocrinology and Metabolism
Abstract Objectives Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database.
Yuji, Oto, Daiki, Suzuki, Tsubasa, Morita, Takeshi, Inoue, Akihisa, Nitta, Nobuyuki, Murakami, Yuuka, Abe, Yoshinobu, Hamada, Tomoyuki, Akiyama, Tomoyo, Matsubara   +9 more
openaire   +2 more sources

ALPL gene mutation in a family

Bone Abstracts, 2019
Silvia Vai, Francesca Broggi, Bianchi Maria Luisa, Emanuela Ponti, Alessandra Mihalich, Di Blasio Anna Maria   +5 more
openaire   +1 more source

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases

Children, 2022
Kazuhiko Nakano, Rena Okawa, Tamami Kadota   +2 more
exaly  

ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia

Journal of Clinical Endocrinology and Metabolism, 2022
Emmanuel Biver, Giovanni Iolascon, Giuseppe Toro   +2 more
exaly  

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

Journal of Bone and Mineral Research, 2020
James G. Prendergast, Ian Deary, Stuart H Ralston   +2 more
exaly  

Hypophosphatasia in Japan: ALPL mutation analysis in 98 patients

Bone Abstracts, 2019
Toshimi Michigami, Kanako Tachikawa, Miwa Yamazaki, Masanobu Kawai, Takuo Kubota, Keiichi Ozono   +5 more
openaire   +1 more source