Document Detail

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
MedLine Citation:
PMID:  15711955     Owner:  NLM     Status:  MEDLINE    
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.
Trevor L Hoffman; Erin M Simon; Can Ficicioglu
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2005-02-15
Journal Detail:
Title:  European journal of pediatrics     Volume:  164     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-21     Completed Date:  2005-09-22     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  298-301     Citation Subset:  IM    
Section of Metabolism, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104-4399, USA.
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MeSH Terms
Acidosis, Lactic / 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
Infant, Newborn
Magnetic Resonance Imaging
Muscle Hypertonia / etiology
Neonatal Screening*
Pakistan / ethnology
Respiratory Sounds / etiology
Speech Disorders / etiology
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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