130 related articles for article (PubMed ID: 34154874)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. [SEVERE INFANTILE HYPOPHOSPHATASIA].
Gurevich E; Landau D
Harefuah; 2017 Jan; 156(1):27-28. PubMed ID: 28530318
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn.
Nunes ML; Mugnol F; Bica I; Fiori RM
J Child Neurol; 2002 Mar; 17(3):222-4. PubMed ID: 12026240
[TBL] [Abstract][Full Text] [Related]
9. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
Litmanovitz ; Reish O; Dolfin T; Arnon S; Regev R; Grinshpan G; Yamazaki M; Ozono K
J Inherit Metab Dis; 2002 Feb; 25(1):35-40. PubMed ID: 11999978
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
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. Neonatal hypophosphatasia and seizures. A case report.
Smilari P; Romeo DM; Palazzo P; Meli C; Sorge G
Minerva Pediatr; 2005 Oct; 57(5):319-23. PubMed ID: 16205618
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
Raimann A; Haberler C; Patsch J; Ertl DA; Sadeghi K; Freilinger M; Lang S; Schmook M; Plecko B; Haeusler G
Horm Res Paediatr; 2021; 94(9-10):390-398. PubMed ID: 34673643
[TBL] [Abstract][Full Text] [Related]
16. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
Mochizuki H; Saito M; Michigami T; Ohashi H; Koda N; Yamaguchi S; Ozono K
Eur J Pediatr; 2000 May; 159(5):375-9. PubMed ID: 10834525
[TBL] [Abstract][Full Text] [Related]
17. Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation.
Esmel-Vilomara R; Hernández S; Campos-Martorell A; González-Roca E; Yeste D; Castillo F
J Clin Res Pediatr Endocrinol; 2020 Mar; 12(1):104-108. PubMed ID: 30929401
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Hypophosphatasia.
Linglart A; Biosse-Duplan M
Curr Osteoporos Rep; 2016 Jun; 14(3):95-105. PubMed ID: 27084188
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
