Latest papers

[Neonatal screening by tandem mass spectrometry: an update]

Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report.

Nephrolithiasis related to inborn metabolic diseases.

A diagnostic algorithm for metabolic myopathies.

[Neonatal screening--more hidden compulsion?]

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].

L-2-hydroxyglutaric aciduria: report of four Turkish adult patients.

One-step metabolomics: carbohydrates, organic and amino acids quantified in a single procedure.

Comprehensive determination of amino acids for diagnosis of inborn errors of metabolism.

Urine organic acid analysis for inherited metabolic disease using gas chromatography-mass spectrometry.

Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life.

Identification of urine organic acids for the detection of inborn errors of metabolism using urease and gas chromatography-mass spectrometry (GC-MS).

Inherited metabolic rare disease.

Prevalence of selected disorders of inborn errors of metabolism in suspected cases at a tertiary care hospital in Karachi.

[Screening for inborn errors of metabolism in children with cerebral palsy of unknown causes].

Screening update.

[Differential diagnosis of neurodegenerative disorders in young adults]

ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent

Profiling of oxidative stress in patients with inborn errors of metabolism