Pages that link to "Q71574992"
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The following pages link to Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry (Q71574992):
Displaying 50 items.
- Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and [...] (Q24534466) (← links)
- Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids (Q24645084) (← links)
- Electrospray ionisation mass spectrometry: principles and clinical applications (Q24682086) (← links)
- Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice (Q24814997) (← links)
- The evolution of blood-spot newborn screening (Q27023046) (← links)
- Disorders of mitochondrial fatty acyl-CoA beta-oxidation (Q28139723) (← links)
- Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry (Q28210966) (← links)
- Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency (Q28212317) (← links)
- Effect of sports activity on carnitine metabolism. Measurement of free carnitine, gamma-butyrobetaine and acylcarnitines by tandem mass spectrometry (Q28373017) (← links)
- ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease (Q28594698) (← links)
- Genetics and genomic medicine in Saudi Arabia (Q28654826) (← links)
- Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population (Q33266841) (← links)
- Atmospheric pressure ionization mass spectrometry of purine and pyrimidine markers of inherited metabolic disorders. (Q33426204) (← links)
- Application of electrospray tandem mass spectrometry to neonatal screening (Q33637060) (← links)
- Derivatization reagents in liquid chromatography/electrospray ionization tandem mass spectrometry (Q33740809) (← links)
- Applications of mass spectrometry in the study of inborn errors of metabolism (Q34280979) (← links)
- Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases. (Q34324731) (← links)
- Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry. (Q34324738) (← links)
- HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q (Q34384562) (← links)
- Pharmacokinetics of L-carnitine (Q34536074) (← links)
- Application of tandem mass spectrometry to biochemical genetics and newborn screening (Q34726413) (← links)
- A public health response to emerging technology: expansion of the Massachusetts newborn screening program (Q34754718) (← links)
- Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders (Q34756564) (← links)
- The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry (Q34804631) (← links)
- Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry (Q35008861) (← links)
- Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula (Q35220692) (← links)
- Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. (Q35260553) (← links)
- Postprandial changes in plasma acylcarnitine concentrations as markers of fatty acid flux in overweight and obesity (Q35560712) (← links)
- Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases (Q35584174) (← links)
- A LC–MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen (Q35714854) (← links)
- Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients (Q36447464) (← links)
- Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse (Q36501934) (← links)
- Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands (Q36590871) (← links)
- Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome (Q36590987) (← links)
- Direct and quantitative analysis of underivatized acylcarnitines in serum and whole blood using paper spray mass spectrometry (Q36687732) (← links)
- Recent advances in newborn screening (Q36753404) (← links)
- Nutritional management of PKU with glycomacropeptide from cheese whey (Q36786748) (← links)
- Newborn screening: experiences in the Middle East and North Africa (Q36911397) (← links)
- Dried blood spot proteomics: surface extraction of endogenous proteins coupled with automated sample preparation and mass spectrometry analysis (Q37018712) (← links)
- Glucose metabolism as a target of histone deacetylase inhibitors. (Q37125470) (← links)
- Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry. (Q37371193) (← links)
- Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes (Q37441175) (← links)
- Expression, purification, and characterization of mouse glycine N-acyltransferase in Escherichia coli (Q37700321) (← links)
- Computational Strategies for Metabolite Identification in Metabolomics (Q37810161) (← links)
- Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria. (Q38759687) (← links)
- Methylmalonic and propionic acidemias: clinical management update (Q38960827) (← links)
- Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease (Q41163020) (← links)
- From gene to screen with yeast (Q41536345) (← links)
- Role of medium- and short-chain L-3-hydroxyacyl-CoA dehydrogenase in the regulation of body weight and thermogenesis. (Q41946553) (← links)
- Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme (Q42539208) (← links)