PMC Links for OMIM (Select 171760) - PMC

Select item 25678561.

Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long Bone Deformity but Showing Spontaneous Postnatal Improvement

David A. Stevenson, John C. Carey, Stephen P. Coburn, Karen L. Ericson, Janice L. B. Byrne, Steven Mumm, Michael P. Whyte

J Clin Endocrinol Metab. 2008 Sep; 93(9): 3443–3448. Published online 2008 Jun 17. doi: 10.1210/jc.2008-0318

PMCID:: PMC2567856

Abstract Article

Select item 17355742.

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

M Herasse, M Spentchian, A Taillandier, K Keppler-Noreuil, A Fliorito, J Bergoffen, R Wallerstein, C Muti, B Simon-Bouy, E Mornet

J Med Genet. 2003 Aug; 40(8): 605–609. doi: 10.1136/jmg.40.8.605

PMCID:: PMC1735574

Summary PDF–252K

Select item 16836903.

Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.

K N Fedde, M P Whyte

Am J Hum Genet. 1990 Nov; 47(5): 767–775.

PMCID:: PMC1683690

Summary Page Browse PDF–1.4M

Select item 3866794.

Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.

M J Weiss, P S Henthorn, M A Lafferty, C Slaughter, M Raducha, H Harris

Proc Natl Acad Sci U S A. 1986 Oct; 83(19): 7182–7186. doi: 10.1073/pnas.83.19.7182

PMCID:: PMC386679

Summary Page Browse PDF–1.1M

Select item 3495045.

Expression of alkaline phosphatase loci in mammalian tissues

David J. Goldstein, Caprice E. Rogers, Harry Harris

Proc Natl Acad Sci U S A. 1980 May; 77(5): 2857–2860. doi: 10.1073/pnas.77.5.2857

PMCID:: PMC349504

Summary Page Browse PDF–699K

Select item 3296546.

Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

M P Whyte, J D Mahuren, K N Fedde, F S Cole, E R McCabe, S P Coburn

J Clin Invest. 1988 Apr; 81(4): 1234–1239. doi: 10.1172/JCI113440

PMCID:: PMC329654

Summary Page Browse PDF–1.1M

Select item 3232987.

Partial sequencing of human adult, human fetal, and bovine intestinal alkaline phosphatases: comparison with the human placental and liver isozymes.

J C Hua, J Berger, Y C Pan, J D Hulmes, S Udenfriend

Proc Natl Acad Sci U S A. 1986 Apr; 83(8): 2368–2372. doi: 10.1073/pnas.83.8.2368

PMCID:: PMC323298

Summary Page Browse PDF–892K

Select item 2822538.

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

M J Weiss, D E Cole, K Ray, M P Whyte, M A Lafferty, R A Mulivor, H Harris

Proc Natl Acad Sci U S A. 1988 Oct; 85(20): 7666–7669. doi: 10.1073/pnas.85.20.7666

PMCID:: PMC282253

Summary Page Browse PDF–1019K

Select item 502469.

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

P S Henthorn, M Raducha, K N Fedde, M A Lafferty, M P Whyte

Proc Natl Acad Sci U S A. 1992 Oct 15; 89(20): 9924–9928. doi: 10.1073/pnas.89.20.9924

PMCID:: PMC50246

Summary Page Browse PDF–1.3M

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