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Items: 1 to 20 of 51

1.

Mutations in BTD causing biotinidase deficiency.

Hymes J, Stanley CM, Wolf B.

Hum Mutat. 2001 Nov;18(5):375-81. Review.

PMID:
11668630
2.

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

Mühl A, Möslinger D, Item CB, Stöckler-Ipsiroglu S.

Eur J Hum Genet. 2001 Apr;9(4):237-43.

3.

Novel mutations cause biotinidase deficiency in Turkish children.

Pomponio RJ, Coskun T, Demirkol M, Tokatli A, Ozalp I, Hüner G, Baykal T, Wolf B.

J Inherit Metab Dis. 2000 Mar;23(2):120-8.

PMID:
10801053
5.

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

Swango KL, Demirkol M, Hüner G, Pronicka E, Sykut-Cegielska J, Schulze A, Mayatepek E, Wolf B.

Hum Genet. 1998 May;102(5):571-5. Erratum in: Hum Genet 1998 Jun;102(6):712.

PMID:
9654207
6.

Structure of the human biotinidase gene.

Knight HC, Reynolds TR, Meyers GA, Pomponio RJ, Buck GA, Wolf B.

Mamm Genome. 1998 Apr;9(4):327-30.

PMID:
9530634
7.

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B.

Pediatr Res. 1997 Dec;42(6):840-8.

PMID:
9396567
8.

Profound biotinidase deficiency in two asymptomatic adults.

Wolf B, Norrgard K, Pomponio RJ, Mock DM, McVoy JR, Fleischhauer K, Shapiro S, Blitzer MG, Hymes J.

Am J Med Genet. 1997 Nov 28;73(1):5-9.

PMID:
9375914
9.

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.

Pomponio RJ, Reynolds TR, Mandel H, Admoni O, Melone PD, Buck GA, Wolf B.

Hum Mol Genet. 1997 May;6(5):739-45.

PMID:
9158148
10.

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

Pomponio RJ, Norrgard KJ, Hymes J, Reynolds TR, Buck GA, Baumgartner R, Suormala T, Wolf B.

Hum Genet. 1997 Apr;99(4):506-12.

PMID:
9099842
11.

Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.

Pomponio RJ, Narasimhan V, Reynolds TR, Buck GA, Povirk LF, Wolf B.

Hum Mol Genet. 1996 Oct;5(10):1657-61.

PMID:
8894703
12.

Biotinidase mutational "hotspot'.

Gordon A.

Nat Genet. 1996 Jun;13(2):144-5. No abstract available.

PMID:
8640218
13.

Infantile spasms as the initial symptom of biotinidase deficiency.

Kalayci O, Coskun T, Tokatli A, Demir E, Erdem G, Güngör C, Yükselen A, Ozalp I.

J Pediatr. 1994 Jan;124(1):103-4.

PMID:
8283357
14.

Biotinidase deficiency in Scotland.

Minns RA, Kirk J.

Dev Med Child Neurol. 1994 Aug;36(8):748-9. No abstract available.

PMID:
8050627
15.

Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

Cole H, Weremowicz S, Morton CC, Wolf B.

Genomics. 1994 Aug;22(3):662-3. No abstract available.

PMID:
8001986
16.

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.

Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B.

Nat Genet. 1995 Sep;11(1):96-8.

PMID:
7550325
17.

Human serum biotinidase. cDNA cloning, sequence, and characterization.

Cole H, Reynolds TR, Lockyer JM, Buck GA, Denson T, Spence JE, Hymes J, Wolf B.

J Biol Chem. 1994 Mar 4;269(9):6566-70.

18.

Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.

Sander JE, Malamud N, Cowan MJ, Packman S, Amman AJ, Wara DW.

Ann Neurol. 1980 Nov;8(5):544-7.

PMID:
7436398
19.

Deficient biotinidase activity in late-onset multiple carboxylase deficiency.

Wolf B, Grier RE, Parker WD Jr, Goodman SI, Allen RJ.

N Engl J Med. 1983 Jan 20;308(3):161. No abstract available.

PMID:
6848914
20.

Two forms of biotin-responsive multiple carboxylase deficiency.

Sweetman L.

J Inherit Metab Dis. 1981;4(2):53-4.

PMID:
6790844
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