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Items: 1 to 20 of 488

1.

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

Weber P, Scholl S, Baumgartner ER.

Dev Med Child Neurol. 2004 Jul;46(7):481-4.

2.

Audiologic findings in children with biotinidase deficiency in Turkey.

Genc GA, Sivri-Kalkanoğlu HS, Dursun A, Aydin HI, Tokatli A, Sennaroglu L, Belgin E, Wolf B, Coşkun T.

Int J Pediatr Otorhinolaryngol. 2007 Feb;71(2):333-9. Epub 2006 Dec 11.

PMID:
17161472
3.

Profound biotinidase deficiency: a rare disease among native Swedes.

Ohlsson A, Guthenberg C, Holme E, von Döbeln U.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S175-80. doi: 10.1007/s10545-010-9065-y. Epub 2010 Mar 12.

PMID:
20224900
4.

Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".

Wolf B.

Genet Med. 2012 Jun;14(6):565-75. doi: 10.1038/gim.2011.6. Epub 2012 Jan 5. Review.

PMID:
22241090
5.

Age at diagnosis of deaf babies: a retrospective analysis highlighting the advantage of newborn hearing screening.

Canale A, Favero E, Lacilla M, Recchia E, Schindler A, Roggero N, Albera R.

Int J Pediatr Otorhinolaryngol. 2006 Jul;70(7):1283-9. Epub 2006 Feb 20.

PMID:
16488484
6.

Biotinidase deficiency: a treatable genetic disorder in the Saudi population.

Joshi S, al-Essa MA, Archibald A, Ozand PT.

East Mediterr Health J. 1999 Nov;5(6):1213-7.

PMID:
11924114
7.

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
8.

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA.

Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31.

PMID:
26361991
9.

The impact of newborn hearing screening on communication development.

Fitzpatrick E, Durieux-Smith A, Eriks-Brophy A, Olds J, Gaines R.

J Med Screen. 2007;14(3):123-31.

PMID:
17925084
10.

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Spanish.

PMID:
21752405
11.

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
12.

A case of partial biotinidase deficiency associated with autism.

Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tatò L.

Child Neuropsychol. 2003 Sep;9(3):184-8.

PMID:
13680408
14.

A modified screening tool for autism (Checklist for Autism in Toddlers [CHAT-23]) for Chinese children.

Wong V, Hui LH, Lee WC, Leung LS, Ho PK, Lau WL, Fung CW, Chung B.

Pediatrics. 2004 Aug;114(2):e166-76.

PMID:
15286253
15.

Screening for speech and language delay in preschool children: systematic evidence review for the US Preventive Services Task Force.

Nelson HD, Nygren P, Walker M, Panoscha R.

Pediatrics. 2006 Feb;117(2):e298-319. Review. Erratum in: Pediatrics. 2006 Jun;117(6):2336-7.

PMID:
16452337
16.

Using otoacoustic emissions to screen for hearing loss in early childhood care settings.

Eiserman WD, Hartel DM, Shisler L, Buhrmann J, White KR, Foust T.

Int J Pediatr Otorhinolaryngol. 2008 Apr;72(4):475-82. doi: 10.1016/j.ijporl.2007.12.006. Epub 2008 Feb 13.

PMID:
18276019
17.

Longitudinal assessment of adaptive behavior in infants and young children with newly diagnosed epilepsy: influences of etiology, syndrome, and seizure control.

Berg AT, Smith SN, Frobish D, Beckerman B, Levy SR, Testa FM, Shinnar S.

Pediatrics. 2004 Sep;114(3):645-50.

PMID:
15342834
18.

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
19.

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
20.

From hearing screening to cochlear implantation: cochlear implants in children under 3 years of age.

Profant M, Kabátová Z, Simková L.

Acta Otolaryngol. 2008 Apr;128(4):369-72. doi: 10.1080/00016480701736254.

PMID:
18368567

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