Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms

(2017) Zahra Nochi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2017) Yuval E. Landau et al.   JOURNAL OF INHERITED METABOLIC 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

Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency

(2015) Beom Hee Lee et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

(2015) Daniela Karall et al.   Orphanet Journal of Rare Diseases

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

(2012) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment

(2011) Lars Hoffmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

(2011) A. Boutron et al.   MOLECULAR GENETICS AND METABOLISM

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population

(2010) Ulrich A. Schatz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

(2010) Sander Michel Houten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

(2010) Martin Lindner 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

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

Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

(2009) T. F. Lang   JOURNAL OF INHERITED METABOLIC DISEASE

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

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

(2008) Christina B. Pedersen et al.   HUMAN GENETICS

Mitochondrial fatty acid oxidation defects—remaining challenges

(2008) Niels Gregersen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

(2008) Reena Jethva et al.   MOLECULAR GENETICS AND METABOLISM

Short-chain acyl-coenzyme A dehydrogenase deficiency

(2008) Reena Jethva et al.   MOLECULAR GENETICS AND METABOLISM

A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD

(2008) Jamiyan Purevsuren et al.   MOLECULAR GENETICS AND METABOLISM