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Items: 1 to 20 of 313

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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.

5.

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Norrgard KJ, Pomponio RJ, Swango KL, Hymes J, Reynolds TR, Buck GA, Wolf B.

Biochem Mol Med. 1997 Jun;61(1):22-7.

PMID:
9232193
6.

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
7.

[Prevalence study of biotinidase deficiency in newborns].

Pinto AL, Raymond KM, Bruck I, Antoniuk SA.

Rev Saude Publica. 1998 Apr;32(2):148-52. Portuguese.

PMID:
9713119
8.

Mutations in BTD causing biotinidase deficiency.

Hymes J, Stanley CM, Wolf B.

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

PMID:
11668630
9.

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.

Neto EC, Schulte J, Rubim R, Lewis E, DeMari J, Castilhos C, Brites A, Giugliani R, Jensen KP, Wolf B.

Braz J Med Biol Res. 2004 Mar;37(3):295-9. Epub 2004 Mar 3.

10.

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
11.

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
12.

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.

László A, Schuler EA, Sallay E, Endreffy E, Somogyi C, Várkonyi A, Havass Z, Jansen KP, Wolf B.

J Inherit Metab Dis. 2003;26(7):693-8.

PMID:
14707518
13.

Partial biotinidase deficiency: clinical and biochemical features.

McVoy JR, Levy HL, Lawler M, Schmidt MA, Ebers DD, Hart PS, Pettit DD, Blitzer MG, Wolf B.

J Pediatr. 1990 Jan;116(1):78-83.

PMID:
2295967
14.

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
15.

Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.

Pomponio RJ, Hymes J, Pandya A, Landa B, Melone P, Javaheri R, Mardach R, Morton SW, Meyers GA, Reynolds T, Buck G, Nance WE, Wolf B.

Prenat Diagn. 1998 Feb;18(2):117-22.

PMID:
9516011
16.

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.

Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S46-9. Epub 2003 Nov 20.

PMID:
14628140
17.

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

Möslinger D, Stöckler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Mühl A, Seidl R, Strobl W, Plecko B, Suormala T, Baumgartner ER.

Eur J Pediatr. 2001 May;160(5):277-82.

PMID:
11388594
18.

Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency.

Lin Z, Fontaine JM, Freer DE, Naylor EW.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):212-9. Epub 2005 Jun 29.

PMID:
15996498
19.

Screening for biotinidase deficiency in newborns: worldwide experience.

Wolf B, Heard GS.

Pediatrics. 1990 Apr;85(4):512-7.

PMID:
2314964
20.

Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.

Heard GS, Wolf B, Jefferson LG, Weissbecker KA, Nance WE, McVoy JR, Napolitano A, Mitchell PL, Lambert FW, Linyear AS.

J Pediatr. 1986 Jan;108(1):40-6.

PMID:
3944695
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