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Items: 1 to 20 of 168

1.

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
2.

A screening method for biotinidase deficiency in newborns.

Heard GS, Secor McVoy JR, Wolf B.

Clin Chem. 1984 Jan;30(1):125-7.

3.

[Results of a pilot study of neonatal screening for congenital biotinidase deficiency].

Sander J, Niehaus C.

Monatsschr Kinderheilkd. 1986 Oct;134(10):729-32. German.

PMID:
3796633
4.

[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
5.

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.

Wolf B, Heard GS, Jefferson LG, Proud VK, Nance WE, Weissbecker KA.

N Engl J Med. 1985 Jul 4;313(1):16-9.

PMID:
4000223
6.
7.

A qualitative assessment of biotinidase deficiency.

Bankson DD, Martin RP, Forman DT.

Ann Clin Lab Sci. 1987 Nov-Dec;17(6):424-8.

PMID:
3500673
8.

Screening for biotinidase deficiency in newborns: worldwide experience.

Wolf B, Heard GS.

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

PMID:
2314964
9.

Biotinidase deficiency: initial clinical features and rapid diagnosis.

Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT.

Ann Neurol. 1985 Nov;18(5):614-7.

PMID:
4073853
10.

The magnitude and challenge of false-positive newborn screening test results.

Kwon C, Farrell PM.

Arch Pediatr Adolesc Med. 2000 Jul;154(7):714-8.

PMID:
10891024
11.

Neonatal screening for biotinidase deficiency in east-Hungary.

Havass Z.

J Inherit Metab Dis. 1991;14(6):928-31.

PMID:
1779652
12.

Neonatal screening for biotinidase deficiency.

Forman DT, Bankson DD, Highsmith WE Jr.

Ann Clin Lab Sci. 1992 May-Jun;22(3):144-54.

PMID:
1503382
13.

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

Santer R, Gok├žay G, Demirkol M, Gal A, Lukacs Z.

J Inherit Metab Dis. 2005;28(2):137-40.

PMID:
15877202
14.

A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency.

Yamaguchi A, Fukushi M, Arai O, Mizushima Y, Sato Y, Shimizu Y, Tomidokoro K, Takasugi N.

Tohoku J Exp Med. 1987 Aug;152(4):339-46.

15.

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
16.

The effect of neonatal jaundice on biotinidase activity.

Schulpis KH, Gavrili S, Tjamouranis J, Karikas GA, Kapiki A, Costalos C.

Early Hum Dev. 2003 May;72(1):15-24.

PMID:
12706308
17.

Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.

Wolf B, Spencer R, Gleason T.

J Pediatr. 2002 Feb;140(2):242-6.

PMID:
11865279
19.
20.

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

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