Results 51 to 60 of about 7,210 (112)

AScrFI polymorphism in the human ALPL gene [PDF]

Nucleic Acids Research, 1991
T, Okuyama, N, Matsuo, J, Kudoh, N, Shimizu   +3 more
openaire   +2 more sources

A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2018
Hypophosphatasia (HPP) is a metabolic bone disease characterized by failure of bone calcification and vitamin B6 dependent seizures. It is caused by loss-of-function mutations in the ALPL gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and pyridoxine hydrochloride administration for vitamin B6 ...
Oyachi, Maki, Harada, Daisuke, Sakamoto, Natsuko, Ueyama, Kaoru, Kondo, Kawai, Kishimoto, Kanako, Izui, Masafumi, Nagamatsu, Yuiko, Kashiwagi, Hiroko, Yamamuro, Miho, Tamura, Makoto, Kikuchi, Shin, Akiyama, Tomoyuki, Michigami, Toshimi, Seino, Yoshiki, Namba, Noriyuki   +15 more
openaire   +2 more sources

A heterozygous mutation in the ALPL gene in an adolescent with Chiari malformation type I accompanied by scoliosis, tethered cord and diastematomyelia. [PDF]

Acta Neurol Belg, 2023
Xu L, Ma C, Shen S, Duan H, Li X.
europepmc   +1 more source

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene. [PDF]

Clin Pediatr Endocrinol, 2023
Tachikawa K, Yamazaki M, Michigami T.
europepmc   +1 more source

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations. [PDF]

Bone Rep, 2022
Kitoh H, Izawa M, Kaneko H, Kitamura A, Matsuyama S, Kato K, Ogi T.   +6 more
europepmc   +1 more source

ALPL Gene [PDF]

, 2020
openaire   +1 more source

PCR detection of a Bc/l RFLP in the human ALPL gene

Nucleic Acids Research, 1991
T, Okuyama, N, Matsuo, J, Kudoh, N, Shimizu   +3 more
openaire   +3 more sources

New homozygous mutation in ALPL gene in Saudi patient with infantile hypophosphatasia [PDF]

Clinical and Medical Investigations, 2017
Maha Alotaibi, Al Qassmi Amal
openaire   +1 more source

Functional and <i>In Silico</i> Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients. [PDF]

Cells
Casamassima G, Grieco AM, Biagini T, Buono G, Cinque L, Pugliese F, Guerra FP, Petrizzelli F, Mastroianno M, Mazza T, Castori M, Scillitani A, Guarnieri V.   +12 more
europepmc   +1 more source

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review. [PDF]

BMC Pediatr, 2019
Mao X, Liu S, Lin Y, Chen Z, Shao Y, Yu Q, Liu H, Lu Z, Sheng H, Lu X, Huang Y, Liu L, Zeng C.   +12 more
europepmc   +1 more source