Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance

(2017) Devin Oglesbee et al.   GENETICS IN MEDICINE

Pyroglutamic acidosis in association with therapeutic paracetamol use

(2016) R. W. Hunter et al.   CLINICAL MEDICINE

Qualitative urinary organic acid analysis: 10 years of quality assurance

(2016) Verena Peters et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

(2016) Saikat Santra et al.   MOLECULAR GENETICS AND METABOLISM

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

(2015) Heidi Peters et al.   MOLECULAR GENETICS AND METABOLISM

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis

(2015) Sayaka Kato et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

(2014) James J. Pitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program

(2014) J.S. Lim et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Aminoacylase I deficiency due to ACY1 mRNA exon skipping

(2013) L. Ferri et al.   CLINICAL GENETICS

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

(2012) Chitra Prasad et al.   MOLECULAR GENETICS AND METABOLISM

Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening

(2012) Krista Viau et al.   MOLECULAR GENETICS AND METABOLISM

Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

(2011) Han-Chih Hencher Lee et al.   CLINICA CHIMICA ACTA

Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients

(2011) Paula B. M. Luís et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

(2011) Jennifer L Sloan et al.   NATURE GENETICS

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

(2010) Vassili Valayannopoulos et al.   MITOCHONDRION

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

(2010) Jaffar Alfardan et al.   MOLECULAR GENETICS AND METABOLISM

National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary

(2009) D. J. Dietzen et al.   CLINICAL CHEMISTRY

Improvement of sample throughput using fast gas chromatography mass-spectrometry for biochemical diagnosis of organic acid disorders

(2008) Shuichi Kawana et al.   CLINICA CHIMICA ACTA

Comparison of tetrahydrofuran and ethyl acetate as extraction solvents for urinary organic acid analysis

(2008) Gy. Wittmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Qualitative urinary organic acid analysis: Methodological approaches and performance

(2008) V. Peters et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

(2008) B. Fowler et al.   JOURNAL OF INHERITED METABOLIC DISEASE