| Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. | |
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MedLine Citation:
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PMID: 15711955 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CONCLUSION: An argument is made for universal newborn screening in biotinidase deficiency and improved mechanisms for follow-up of positive screens, because delay in diagnosis results in irreversible morbidity, newborn screening is cost effective, and early therapy prevents the neurologic sequelae. |
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Authors:
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Trevor L Hoffman; Erin M Simon; Can Ficicioglu |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2005-02-15 |
Journal Detail:
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Title: European journal of pediatrics Volume: 164 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2005 May |
Date Detail:
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Created Date: 2005-04-21 Completed Date: 2005-09-22 Revised Date: 2013-05-20 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 298-301 Citation Subset: IM |
Affiliation:
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Section of Metabolism, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104-4399, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis, Lactic
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etiology Ataxia / etiology Biotin / therapeutic use Biotinidase Deficiency / diagnosis*, drug therapy Brain / pathology Continuity of Patient Care* Hearing Loss, Bilateral / etiology Hearing Loss, Sensorineural / etiology Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Muscle Hypertonia / etiology Neonatal Screening* Pakistan / ethnology Pennsylvania Respiratory Sounds / etiology Speech Disorders / etiology |
| Chemical | |
Reg. No./Substance:
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58-85-5/Biotin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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