350 related articles for article (PubMed ID: 31014398)
1. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.
Fukushima K; Kawai-Kowase K; Yonemoto Y; Fujiwara M; Sato H; Sato M; Kubota T; Ozono K; Tamura J
J Med Case Rep; 2019 Apr; 13(1):101. PubMed ID: 31014398
[TBL] [Abstract][Full Text] [Related]
2. Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences.
Belkhouribchia J; Bravenboer B; Meuwissen M; Velkeniers B
BMJ Case Rep; 2016 Jan; 2016():. PubMed ID: 26823351
[TBL] [Abstract][Full Text] [Related]
3. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
Watanabe A; Karasugi T; Sawai H; Naing BT; Ikegawa S; Orimo H; Shimada T
J Hum Genet; 2011 Feb; 56(2):166-8. PubMed ID: 21179104
[TBL] [Abstract][Full Text] [Related]
4. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.
Lefever E; Witters P; Gielen E; Vanclooster A; Meersseman W; Morava E; Cassiman D; Laurent MR
J Clin Densitom; 2020; 23(3):340-348. PubMed ID: 30655187
[TBL] [Abstract][Full Text] [Related]
5. Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood.
Khandwala HM; Mumm S; Whyte MP
Endocr Pract; 2006; 12(6):676-81. PubMed ID: 17229666
[TBL] [Abstract][Full Text] [Related]
6. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS; Savostyanov KV; Nagornova TS; Chernov AN; Fedyakov MA; Raspopova AN; Krasnoukhov KN; Danilov LG; Moiseeva NV; Kalinin RS; Tsai VV; Eismont YA; Voinova VY; Vitebskaya AV; Gurkina EY; Kuzenkova LM; Sosnina IB; Pushkov AA; Zhanin IS; Zakharova EY
Int J Mol Sci; 2022 Oct; 23(21):. PubMed ID: 36361766
[TBL] [Abstract][Full Text] [Related]
7. Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T; Tachikawa K; Yamazaki M; Kawai M; Kubota T; Ozono K
Calcif Tissue Int; 2020 Mar; 106(3):221-231. PubMed ID: 31707452
[TBL] [Abstract][Full Text] [Related]
8. Hypophosphatasia may lead to bone fragility: don't miss it.
Moulin P; Vaysse F; Bieth E; Mornet E; Gennero I; Dalicieux-Laurencin S; Baunin C; Tauber MT; De Gauzy JS; Salles JP
Eur J Pediatr; 2009 Jul; 168(7):783-8. PubMed ID: 18818947
[TBL] [Abstract][Full Text] [Related]
9. Perinatal hypophosphatasia caused by uniparental isodisomy.
Watanabe A; Satoh S; Fujita A; Naing BT; Orimo H; Shimada T
Bone; 2014 Mar; 60():93-7. PubMed ID: 24334170
[TBL] [Abstract][Full Text] [Related]
10. Mutational and biochemical findings in adults with persistent hypophosphatasemia.
McKiernan FE; Dong J; Berg RL; Scotty E; Mundt P; Larson L; Rai I
Osteoporos Int; 2017 Aug; 28(8):2343-2348. PubMed ID: 28401263
[TBL] [Abstract][Full Text] [Related]
11. Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.
Zhang H; Ke YH; Wang C; Yue H; Hu WW; Gu JM; Zhang ZL
Arch Med Res; 2012 Jan; 43(1):21-30. PubMed ID: 22300680
[TBL] [Abstract][Full Text] [Related]
12. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
Uday S; Matsumura T; Saraff V; Saito S; Orimo H; Högler W
Bone; 2019 Oct; 127():9-16. PubMed ID: 31146036
[TBL] [Abstract][Full Text] [Related]
13. Four novel mutations in the
Xu L; Pang Q; Jiang Y; Wang O; Li M; Xing X; Xia W
Biosci Rep; 2018 Aug; 38(4):. PubMed ID: 29724887
[TBL] [Abstract][Full Text] [Related]
14. ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.
Camacho PM; Mazhari AM; Wilczynski C; Kadanoff R; Mumm S; Whyte MP
Endocr Pract; 2016 Aug; 22(8):941-50. PubMed ID: 27042741
[TBL] [Abstract][Full Text] [Related]
15. Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.
Güzel Nur B; Çelmeli G; Manguoğlu E; Soyucen E; Bircan İ; Mıhçı E
J Clin Res Pediatr Endocrinol; 2016 Sep; 8(3):360-4. PubMed ID: 27086862
[TBL] [Abstract][Full Text] [Related]
16. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Baumgartner-Sigl S; Haberlandt E; Mumm S; Scholl-Bürgi S; Sergi C; Ryan L; Ericson KL; Whyte MP; Högler W
Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561
[TBL] [Abstract][Full Text] [Related]
17. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.
Sawai H; Kanazawa N; Tsukahara Y; Koike K; Udagawa H; Koyama K; Mornet E
Prenat Diagn; 2003 Sep; 23(9):743-6. PubMed ID: 12975786
[TBL] [Abstract][Full Text] [Related]
18. Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
Taillandier A; Sallinen SL; Brun-Heath I; De Mazancourt P; Serre JL; Mornet E
J Clin Endocrinol Metab; 2005 Apr; 90(4):2436-9. PubMed ID: 15671102
[TBL] [Abstract][Full Text] [Related]
19. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
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
BMC Pediatr; 2019 Nov; 19(1):456. PubMed ID: 31760938
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]