Measurement of methylmalonic acid in urine filter paper specimens by gas chromatography

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

JIMD reports·2015

A psychosocial model of a medical problem: Maternal phenylketonuria.

The journal of primary prevention·2013

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

JIMD reports·2013

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Journal of human genetics·2009

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.

Molecular genetics and metabolism·2008

Maternal histidinaemia: pregnancies and offspring outcomes.

Journal of inherited metabolic disease·2004

Machine learning-aided serum N-glycomic signatures reveal potential biomarkers for acute ischemic stroke and minocycline treatment response.

Clinica chimica acta; international journal of clinical chemistry·2026

Integrating artificial intelligence into medical laboratories: A structured implementation framework.

Clinica chimica acta; international journal of clinical chemistry·2026

Study of biallelic variants in CYP2R1 causing vitamin D hydroxylation deficiency rickets type 1B.

Clinica chimica acta; international journal of clinical chemistry·2026

Comparative diagnostic utility of cerebrospinal fluid biomarkers in multiple sclerosis.

Clinica chimica acta; international journal of clinical chemistry·2026

Impact of ISO/TS 20914-based measurement uncertainty on HbA1c classification around clinical decision limits: A real-world evaluation of two analytical systems.

Clinica chimica acta; international journal of clinical chemistry·2026

From promise to practice: Assessing middleware characteristics in autoimmune diagnostics.

Clinica chimica acta; international journal of clinical chemistry·2026

Hyperactive Delirium Temporally Associated With Hydroxyzine in a Child With Succinic Semialdehyde Dehydrogenase Deficiency Presenting With Psychotic Symptoms: A Case Report.

Case reports in psychiatry·2026

Plasma eMTBR-tau243 as a disease biomarker across Alzheimer's disease clinical phenotypes.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Dual-mode microfluidic RELS-QCM platform for label-free profiling of mitochondrial preparations from a graded stress model.

Talanta·2026

Dynamic enantioselective high-performance liquid chromatography as a tool to probe configurational lability: Investigation of a chiral tetrahydrofuran building block.

Journal of chromatography. A·2026

Comparison of enzymatic and bisulfite-based methods for sequencing-based cell-free DNA methylation profiling.

Frontiers in epigenetics and epigenomics·2026

Smartphone-Integrated Fluorescence Sensing Platform for Specific Detection of Methamphetamine Using a Fe,Zn@PEI-CDs Fluorescent Probe.

Luminescence : the journal of biological and chemical luminescence·2026

Related Experiment Videos

Measurement of methylmalonic acid in urine filter paper specimens by gas chromatography

Related Concept Videos

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

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.

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Machine learning-aided serum N-glycomic signatures reveal potential biomarkers for acute ischemic stroke and minocycline treatment response.

Integrating artificial intelligence into medical laboratories: A structured implementation framework.

Study of biallelic variants in CYP2R1 causing vitamin D hydroxylation deficiency rickets type 1B.

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Impact of ISO/TS 20914-based measurement uncertainty on HbA1c classification around clinical decision limits: A real-world evaluation of two analytical systems.

From promise to practice: Assessing middleware characteristics in autoimmune diagnostics.

Hyperactive Delirium Temporally Associated With Hydroxyzine in a Child With Succinic Semialdehyde Dehydrogenase Deficiency Presenting With Psychotic Symptoms: A Case Report.

Plasma eMTBR-tau243 as a disease biomarker across Alzheimer's disease clinical phenotypes.

Dual-mode microfluidic RELS-QCM platform for label-free profiling of mitochondrial preparations from a graded stress model.

Dynamic enantioselective high-performance liquid chromatography as a tool to probe configurational lability: Investigation of a chiral tetrahydrofuran building block.

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Measurement of methylmalonic acid in urine filter paper specimens by gas chromatography

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