355 related articles for article (PubMed ID: 27086862)
1. 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]
2. 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]
3. Hypophosphatasia as a rare cause of neonatal seizures.
Kavčič A; Paro-Panjan D; Soltirovska-Šalamon A
Arch Pediatr; 2021 Aug; 28(6):496-499. PubMed ID: 34154874
[TBL] [Abstract][Full Text] [Related]
4. Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
Demirbilek H; Alanay Y; Alikaşifoğlu A; Topçu M; Mornet E; Gönç N; Özön A; Kandemir N
J Clin Res Pediatr Endocrinol; 2012 Mar; 4(1):34-8. PubMed ID: 22394703
[TBL] [Abstract][Full Text] [Related]
5. Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy.
Ishiguro T; Sugiyama Y; Ueda K; Muramatsu Y; Tsuda H; Kotani T; Michigami T; Tachikawa K; Akiyama T; Hayakawa M
Brain Dev; 2019 Sep; 41(8):721-725. PubMed ID: 31000369
[TBL] [Abstract][Full Text] [Related]
6. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
Hofmann C; Liese J; Schwarz T; Kunzmann S; Wirbelauer J; Nowak J; Hamann J; Girschick H; Graser S; Dietz K; Zeck S; Jakob F; Mentrup B
Bone; 2013 Jul; 55(1):150-7. PubMed ID: 23454488
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
de Roo MGA; Abeling NGGM; Majoie CB; Bosch AM; Koelman JHTM; Cobben JM; Duran M; Poll-The BT
Mol Genet Metab; 2014 Mar; 111(3):404-407. PubMed ID: 24100244
[TBL] [Abstract][Full Text] [Related]
9. [SEVERE INFANTILE HYPOPHOSPHATASIA].
Gurevich E; Landau D
Harefuah; 2017 Jan; 156(1):27-28. PubMed ID: 28530318
[TBL] [Abstract][Full Text] [Related]
10. A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
Mentrup B; Girschick H; Jakob F; Hofmann C
Bone; 2017 Jan; 94():75-83. PubMed ID: 27777120
[TBL] [Abstract][Full Text] [Related]
11. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M; Merrien Y; Herasse M; Dobbie Z; Gläser D; Holder SE; Ivarsson SA; Kostiner D; Mansour S; Norman A; Roth J; Stipoljev F; Taillemite JL; van der Smagt JJ; Serre JL; Simon-Bouy B; Taillandier A; Mornet E
Hum Mutat; 2003 Jul; 22(1):105-6. PubMed ID: 12815606
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J; Álvarez I; Riancho-Zarrabeitia L; Martos-Moreno GÁ; Mandrile G; de la Flor Crespo M; Sukchev M; Sherif M; Kramer I; Darnaude-Ortiz MT; Arias P; Gordo G; Dapía I; Martinez-Villanueva J; Gómez R; Iturzaeta JM; Otaify G; García-Unzueta M; Rubinacci A; Riancho JA; Aglan M; Temtamy S; Hamid MA; Argente J; Ruiz-Pérez VL; Heath KE; Lapunzina P
Am J Med Genet A; 2017 Mar; 173(3):601-610. PubMed ID: 28127875
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Severe perinatal hypophosphatasia case with a novel mutation.
Yazici H; Canda E; Kalkan Ucar S; Coker M
Arch Argent Pediatr; 2022 Feb; 120(1):e21-e24. PubMed ID: 35068125
[TBL] [Abstract][Full Text] [Related]
16. Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.
Ogawa E; Shimura K; Yoshihashi H; Miyama S
Pediatr Neurol; 2022 May; 130():4-6. PubMed ID: 35303588
[TBL] [Abstract][Full Text] [Related]
17. First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
Park EG; Cho SY; Lee J; Kim J; Cho H; Kim J; Huh R; Ki CS; Kim OH; Jin DK
Ann Clin Lab Sci; 2016 May; 46(3):302-7. PubMed ID: 27312557
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.
Balasubramaniam S; Bowling F; Carpenter K; Earl J; Chaitow J; Pitt J; Mornet E; Sillence D; Ellaway C
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S25-33. PubMed ID: 20049532
[TBL] [Abstract][Full Text] [Related]
20. Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.
Petković Ramadza D; Stipoljev F; Sarnavka V; Begović D; Potocki K; Fumić K; Mornet E; Barić I
Coll Antropol; 2009 Dec; 33(4):1255-8. PubMed ID: 20102078
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
