Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

(2016) Loren D.M. Pena et al.   MOLECULAR GENETICS AND METABOLISM

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

(2015) Jonathan Rips et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impact of age at onset and newborn screening on outcome in organic acidurias

(2015) Jana Heringer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Current status of newborn screening worldwide: 2015

(2015) Bradford L. Therrell et al.   SEMINARS IN PERINATOLOGY

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

(2014)   GENETICS IN MEDICINE

50 years of newborn screening

(2014) Georg F. Hoffmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening: the genomic challenge

(2014) Harvey L. Levy   Molecular Genetics & Genomic Medicine

Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience

(2013) Pascale E. Karam et al.   CLINICAL BIOCHEMISTRY

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening

(2013) Susan E. Waisbren et al.   Developmental Disabilities Research Reviews

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

(2013) Cynthia F. Hinton et al.   GENETICS IN MEDICINE

Genomics in Newborn Screening

(2013) Yuval E. Landau et al.   JOURNAL OF PEDIATRICS

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

(2012) Allan Meldgaard Lund et al.   MOLECULAR GENETICS AND METABOLISM

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

Newborn screening: how are we travelling, and where should we be going?

(2011) Bridget Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

(2011) Martin Lindner et al.   Orphanet Journal of Rare Diseases

Newborn screening conditions: What we know, what we do not know, and how we will know it

(2010) Harvey L. Levy   GENETICS IN MEDICINE

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

Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing

(2010) Ute Spiekerkoetter et al.   JOURNAL OF PEDIATRICS

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

(2010) Roman Yusupov et al.   MOLECULAR GENETICS AND METABOLISM

Projected Costs, Risks, and Benefits of Expanded Newborn Screening for MCADD

(2010) L. A. Prosser et al.   PEDIATRICS

Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

(2009) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM

Newborn Screening for Genetic Disorders

(2009) Paul M. Fernhoff   PEDIATRIC CLINICS OF NORTH AMERICA

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

(2009) B. Wilcken et al.   PEDIATRICS

Expanded Newborn Screening: Implications for Genomic Medicine

(2008) Linda L. McCabe et al.   Annual Review of Medicine

The consequences of extended newborn screening programmes: Do we know who needs treatment?

(2008) B. Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

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