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Items: 1 to 20 of 82

1.
Effects of Infantile Hypophosphatasia on Human Dental Tissue
Eva Maria Wölfel, Simon von Kroge, Levi Matthies, Till Koehne, Karin Petz, Thomas Beikler, Carmen Ulrike Schmid-Herrmann, Bärbel Kahl-Nieke, Konstantinos Tsiakas, René Santer, Nicole Maria Muschol, Jochen Herrmann, Björn Busse, Michael Amling, Tim Rolvien, Nico Maximilian Jandl, Florian Barvencik
Calcif Tissue Int. 2023; 112(3): 308–319. Published online 2022 Nov 21. doi: 10.1007/s00223-022-01041-4
PMCID:
PMC9968273
ArticlePDF–5.4M
2.
Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports
Insung Kim, Eu-Seon Noh, Min-Sun Kim, Ja-Hyun Jang, Tae Yeon Jeon, Hae Won Choi, Sung Yoon Cho
Medicine (Baltimore) 2023 Feb 10; 102(6): e32800. Published online 2023 Feb 10. doi: 10.1097/MD.0000000000032800
PMCID:
PMC9907957
ArticlePDF–798K
3.
Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report
Leeann Qubain, Pamela Smith, Neeraj Vij, Mohan Belthur
Cureus. 2022 May; 14(5): e25426. Published online 2022 May 28. doi: 10.7759/cureus.25426
PMCID:
PMC9235917
ArticlePDF–442K
4.
Genetic causes of neonatal and infantile hypercalcaemia
Caroline M. Gorvin
Pediatr Nephrol. 2022; 37(2): 289–301. Published online 2021 May 14. doi: 10.1007/s00467-021-05082-z
PMCID:
PMC8816529
ArticlePDF–626K
5.
新复合杂合突变致婴儿型低磷酸酯酶症1例及其家系分析
李 登峰, 蓝 丹, 钟 京梓, Roma KajalDewan, 谢 彦舒, 杨 莹
Zhongguo Dang Dai Er Ke Za Zhi. 2017 May 25; 19(5): 539–544. Chinese. doi: 10.7499/j.issn.1008-8830.2017.05.012
PMCID:
PMC7389124
ArticlePDF–2.2M
6.
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu
Orphanet J Rare Dis. 2019; 14: 198. Published online 2019 Aug 14. doi: 10.1186/s13023-019-1129-y
PMCID:
PMC6692931
ArticlePDF–552K
7.
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
Banu Güzel Nur, Gamze Çelmeli, Esra Manguoğlu, Erdoğan Soyucen, İffet Bircan, Ercan Mıhçı
J Clin Res Pediatr Endocrinol. 2016 Sep; 8(3): 360–364. Published online 2016 Sep 1. doi: 10.4274/jcrpe.2798
PMCID:
PMC5096504
ArticlePDF–141K
8.
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
Michael P. Whyte, Cheryl Rockman-Greenberg, Keiichi Ozono, Richard Riese, Scott Moseley, Agustin Melian, David D. Thompson, Nicholas Bishop, Christine Hofmann
J Clin Endocrinol Metab. 2016 Jan; 101(1): 334–342. Published online 2015 Nov 3. doi: 10.1210/jc.2015-3462
PMCID:
PMC4701846
Article
9.
Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures
Dina Belachew, Traci Kazmerski, Ingrid Libman, Amy C. Goldstein, Susan T. Stevens, Stephanie DeWard, Jerry Vockley, Mark A. Sperling, Arcangela L. Balest
JIMD Rep. 2013; 11: 17–24. Published online 2013 Mar 12. doi: 10.1007/8904_2013_217
PMCID:
PMC3755558
ArticlePDF–207K
10.
Rescue of Severe Infantile Hypophosphatasia Mice by AAV-Mediated Sustained Expression of Soluble Alkaline Phosphatase
Tae Matsumoto, Koichi Miyake, Seiko Yamamoto, Hideo Orimo, Noriko Miyake, Yuko Odagaki, Kumi Adachi, Osamu Iijima, Sonoko Narisawa, José Luis Millán, Yoshitaka Fukunaga, Takashi Shimada
Hum Gene Ther. 2011 Nov; 22(11): 1355–1364. Published online 2011 Mar 10. doi: 10.1089/hum.2010.210
PMCID:
PMC3225041
ArticlePDF–548K
11.
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.
B N Chodirker, J A Evans, L E Seargeant, M S Cheang, C R Greenberg
Am J Hum Genet. 1990 Feb; 46(2): 280–285.
PMCID:
PMC1684979
SummaryPage BrowsePDF–910K
12.
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.
C R Greenberg, J A Evans, S McKendry-Smith, S Redekopp, J C Haworth, R Mulivor, B N Chodirker
Am J Hum Genet. 1990 Feb; 46(2): 286–292.
PMCID:
PMC1684978
SummaryPage BrowsePDF–1.1M
13.
Theoretical study on the polar hydrogen-π (Hp-π) interactions between protein side chains
Qi-Shi Du, Qing-Yan Wang, Li-Qin Du, Dong Chen, Ri-Bo Huang
Chem Cent J. 2013; 7: 92. Published online 2013 May 25. doi: 10.1186/1752-153X-7-92
PMCID:
PMC3666963
ArticlePDF–902K
14.
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population
Oleg S. Glotov, Kirill V. Savostyanov, Tatyana S. Nagornova, Alexandr N. Chernov, Mikhail A. Fedyakov, Aleksandra N. Raspopova, Konstantin N. Krasnoukhov, Lavrentii G. Danilov, Nadegda V. Moiseeva, Roman S. Kalinin, Victoria V. Tsai, Yuri A. Eismont, Victoria Y. Voinova, Alisa V. Vitebskaya, Elena Y. Gurkina, Ludmila M. Kuzenkova, Irina B. Sosnina, Alexander A. Pushkov, Ilya S. Zhanin, Ekaterina Y. Zakharova
Int J Mol Sci. 2022 Nov; 23(21): 12976. Published online 2022 Oct 26. doi: 10.3390/ijms232112976
PMCID:
PMC9654387
ArticlePDF–4.6M
15.
Gene Therapy Using Adeno‐Associated Virus Serotype 8 Encoding TNAP‐D10 Improves the Skeletal and Dentoalveolar Phenotypes in Alpl−/− Mice
Yuka Kinoshita, Fatma F Mohamed, Flavia Amadeu de Oliveira, Sonoko Narisawa, Koichi Miyake, Brian L Foster, José Luis Millán
J Bone Miner Res. 2021 Sep; 36(9): 1835–1849. Published online 2021 Jun 15. doi: 10.1002/jbmr.4382
PMCID:
PMC8446309
ArticlePDF–18M
16.
Clinical and genetic characteristics of hypophosphatasia in Chinese children
Meijuan Liu, Min Liu, Xuejun Liang, Di Wu, Wenjing Li, Chang Su, Bingyan Cao, Jiajia Chen, Chunxiu Gong
Orphanet J Rare Dis. 2021; 16: 159. Published online 2021 Apr 7. doi: 10.1186/s13023-021-01798-1
PMCID:
PMC8028151
ArticlePDF–1.1M
17.
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children
Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob, Christine Hofmann
Orphanet J Rare Dis. 2020; 15: 212. Published online 2020 Aug 18. doi: 10.1186/s13023-020-01500-x
PMCID:
PMC7436954
ArticlePDF–1.0M
18.
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review
Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao, Qiaoli Yu, Haiying Liu, Zhikun Lu, Huiyin Sheng, Xinshuo Lu, Yonglan Huang, Li Liu, Chunhua Zeng
BMC Pediatr. 2019; 19: 456. Published online 2019 Nov 25. doi: 10.1186/s12887-019-1800-4
PMCID:
PMC6876108
ArticlePDF–1.3M
19.
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Makoto Fujiwara, Hiroko Sato, Mahito Sato, Takuo Kubota, Keiichi Ozono, Junich Tamura
J Med Case Rep. 2019; 13: 101. Published online 2019 Apr 24. doi: 10.1186/s13256-019-2045-4
PMCID:
PMC6480864
ArticlePDF–673K
20.
Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
Fengdan Yu, Junyi Wang, Xiaojing Xu
BMC Pediatr. 2019; 19: 109. Published online 2019 Apr 13. doi: 10.1186/s12887-019-1478-7
PMCID:
PMC6461808
ArticlePDF–3.5M

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