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2. [Radiological features of hypophosphatasia. Observations in two brothers with a malignant neonatal course]. Bessler W; Fanconi A Fortschr Geb Rontgenstr Nuklearmed; 1972 Jul; 117(1):58-65. PubMed ID: 4341610 [No Abstract] [Full Text] [Related]
3. Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Sergi C; Mornet E; Troeger J; Voigtlaender T Am J Med Genet; 2001 Oct; 103(3):235-40. PubMed ID: 11745997 [TBL] [Abstract][Full Text] [Related]
4. Two siblings with hypophosphatasia. Nakanishi I; Masuda S; Katsuda S; Kihara J; Ihara M; Yamazaki C Acta Pathol Jpn; 1980 Jul; 30(4):621-9. PubMed ID: 7415841 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Phenotypically dissimilar hypophosphatasia in two sibships. Macfarlane JD; Kroon HM; van der Harten JJ Am J Med Genet; 1992 Jan; 42(1):117-21. PubMed ID: 1308350 [TBL] [Abstract][Full Text] [Related]
8. Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. Moore CA; Ward JC; Rivas ML; Magill HL; Whyte MP Am J Med Genet; 1990 May; 36(1):15-22. PubMed ID: 2333903 [TBL] [Abstract][Full Text] [Related]
16. Neonatal form of hypophosphatasia. A case report. Tekinalp G; Gürakan B; Yalçin S; Cağlar M; Ergin H Turk J Pediatr; 1995; 37(4):421-4. PubMed ID: 8560613 [TBL] [Abstract][Full Text] [Related]
17. [Hypophosphatasia: a family study]. Guala A; Tomà P; Liverani ME; Fresia A; Biroli E; Cerruti Mainardi P Pediatr Med Chir; 1991; 13(2):179-86. PubMed ID: 1896385 [TBL] [Abstract][Full Text] [Related]