Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening
出版年份 2013 全文链接
标题
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening
作者
关键词
-
出版物
Developmental Disabilities Research Reviews
Volume 17, Issue 3, Pages 260-268
出版商
Wiley
发表日期
2013-06-24
DOI
10.1002/ddrr.1119
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
- (2012) Natalie M. Gallant et al. MOLECULAR GENETICS AND METABOLISM
- The adult galactosemic phenotype
- (2011) Susan E. Waisbren et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
- (2010) Shelley Kennedy et al. BMC Pediatrics
- The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
- (2010) Ulrich A. Schatz et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening
- (2010) Jolanta Sykut-Cegielska et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Expanded newborn screening: reducing harm, assessing benefit
- (2010) Bridget Wilcken JOURNAL OF INHERITED METABOLIC DISEASE
- Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
- (2010) Ute Spiekerkoetter JOURNAL OF INHERITED METABOLIC DISEASE
- Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
- (2010) Roman Yusupov et al. MOLECULAR GENETICS AND METABOLISM
- Delayed language development due to infantile thiamine deficiency
- (2009) AVIVA FATTAL-VALEVSKI et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
- (2009) U. Spiekerkoetter et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic☆
- (2009) S. Waisbren et al. MOLECULAR GENETICS AND METABOLISM
- Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
- (2009) B. Wilcken et al. PEDIATRICS
- Neuropsychological Functioning in Children with Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency (MCADD): The Impact of Early Diagnosis and Screening on Outcome
- (2008) Pamela Joy et al. CHILD NEUROPSYCHOLOGY
- Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
- (2008) S.E. Waisbren et al. MOLECULAR GENETICS AND METABOLISM
- Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening
- (2008) H.-W. Hsu et al. PEDIATRICS
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