HYPOPHOSPHATASIA

作品数：6被引量：5H指数：1
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相关领域：医药卫生更多>>
相关机构：吉林大学更多>>
相关期刊：《Open Journal of Stomatology》《Journal of Pharmacy and Pharmacology》《Chinese Medical Journal》《World Journal of Clinical Cases》更多>>
相关基金：国家自然科学基金更多>>
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Hypophosphatasia:A case report
《World Journal of Clinical Cases》2025年第21期71-77,共7页Angad Singh Gill Pallavi Sharma Mahmoud Nassar Erlin Marte 
BACKGROUND Hypophosphatasia(HPP)is a rare metabolic disorder caused by low tissue-nonspecific alkaline phosphatase(ALP)activity,presenting symptoms from bone demineralization to tooth loss.It affects multiple systems ...
关键词：HYPOPHOSPHATASIA Tissue-nonspecific alkaline phosphatase OSTEOPENIA Enzyme replacement therapy Asfotase alfa Low alkaline phosphatase levels Vitamin B6 metabolism Skeletal hypomineralization Rare metabolic disorders Adultonset hypophosphatasia Case report 
Rathbun syndrome(hypophosphatasia)due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype
《Chinese Medical Journal》2022年第3期377-378,共2页Josef Finsterer Claudia Stöllberger 
To the Editor:Hypophosphatasia(HPP)is a musculoskeletal inborn error-of-metabolism caused by variants in alkaline phosphatase(ALPL)with reduced activity of the serum tissue-non-specific alkaline phosphatase,[1]which i...
关键词：metabolism HEALING ORGANS 
Ionomycin ameliorates hypophosphatasia via rescuing alkaline phosphatase deficiency-mediated L-type Ca^(2+) channel internalization in mesenchymal stem cells被引量：5
《Bone Research》2020年第2期182-196,共15页Bei Li Xiaoning He Zhiwei Dong Kun Xuan Wei Sun Li Gao Shiyu Liu Wenjia Liu Chenghu Hu Yimin Zhao Songtao Shi Yan Jin 
funded by grants from the National Natural Science Foundation of China (Nos. 81620108007 and 81870768);the National Key Research and Development Program of China (Nos. 2016YFC1101400 and 2017YFA0104800);the Scientific Young Alma of Shaanxi province (2018KJXX-015)。
The loss-of-function mutations in the ALPL result in hypophosphatasia(HPP), an inborn metabolic disorder that causes skeletal mineralization defects. In adults, the main clinical features are early loss of primary or ...
关键词：GSK3Β INTERNALIZATION HOMEOSTASIS 
Diagnosis of Hypophosphatasia
《Journal of Pharmacy and Pharmacology》2018年第7期688-691,共4页Cleiton Fantin Denise Correa Benzaquem Vania Mesquita Gadelha Prazeres 
Objective： HPP （Hypophosphatasia） is a congenital disease characterized by a deficiency of tissue-specific ALP （alkaline phosphatase）, which causes the generation of abnormal bone and tooth tissue. The clinical m...
关键词：HPP ALP CHILD 
Improvement of Bone and Dental Phenotype of Murine Hypophosphatasia Mediated by a Single Injection of Lentiviral Gene Therapy
《Open Journal of Stomatology》2017年第1期91-103,共13页Seiko Yamamoto-Nemoto Kei Ogawa Eri Yokoi Kanako Sawamoto Akane Yamaguchi Elif Bahar Tuna Takehiko Shimizu 
Background: Alkaline phosphatase has 4 isozymes, tissue non-specific alkaline phosphatase (TNAP), placental alkaline phosphatase (PLAP), intestinal alkaline phosphatase and germ-cell alkaline phosphatase. Hypophosphat...
关键词：HYPOPHOSPHATASIA Odonto-HPP Tissue Non-Specific Alkaline PHOSPHATASE 
Oral Symptoms and Bone Observations in Odonto-Hypophosphatasia
《Open Journal of Stomatology》2016年第12期245-251,共7页Seiko Yamamoto-Nemoto Rina Shimada Hanako Tajima Emiko Iwasawa Yoko Shimizu Elif Bahar Tuna Kei Ogawa Atsushi Watanabe Takehiko Shimizu 
Hypophosphatasia (HPP) is an inherited skeletal disease caused by mutation of the gene encoding tissue non-specific alkaline phosphatase (TNSALP). Odonto-HPP is well known as the mildest of HPP. The manifestations inv...
关键词：HYPOPHOSPHATASIA Odonto-HPP Tissue Non-Specific Alkaline Phosphatase 
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