Laboratory techniques for the detection of hereditary metabolic disorders

بواسطة Scott, C. Ronald
منشور في 1976

Inborn errors of specific immunity

بواسطة Scott, C. Ronald
منشور في 1980

Enzyme defects and immune dysfunction

بواسطة Scott, C. Ronald
منشور في 1980

Congenital mental retardation

بواسطة Scott, C. Ronald
منشور في 1971

An ABC of medical genetics

بواسطة Scott, C. Ronald
منشور في 1971

Lysosomes and storage diseases

بواسطة Scott, C. Ronald
منشور في 1974

Human biochemical genetics: an insight into inborn errors of metabolism

بواسطة Yu, Chunli, Scott, C. Ronald
منشور في 2006

Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretion

بواسطة Jack, Rhona M., Scott, C. Ronald
الحاوية / القاعدة JIMD Rep (2019)

Newborn Screening for Lysosomal Storage Diseases

بواسطة Gelb, Michael H., Scott, C. Ronald, Turecek, Frantisek
الحاوية / القاعدة Clin Chem (2014)

Detection of the Carrier State in Combined Immunodeficiency Disease Associated with Adenosine Deaminase Deficiency

بواسطة Scott, C. Ronald, Chen, Shi-Han, Giblett, Eloise R.
منشور في 1974

Direct Assay of Enzymes in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry. Porphobilinogen Deaminase

بواسطة Wang, Yuesong, Scott, C. Ronald, Gelb, Michael H., Tureček, František
منشور في 2008

Direct Assay of δ-Aminolevulinic Acid Dehydratase in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry

بواسطة Choiniere, John R., Scott, C. Ronald, Gelb, Michael H., Tureček, František
منشور في 2010

Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme ass...

بواسطة Hong, Xinying, Kumar, Arun Babu, Scott, C. Ronald, Gelb, Michael H.
الحاوية / القاعدة Mol Genet Metab (2018)

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

بواسطة Blanchard, Sophie, Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
منشور في 2008

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis IVA

بواسطة Khaliq, Tanvir, Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
منشور في 2010

Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry

بواسطة Ghomashchi, Farideh, Barcenas, Mariana, Turecek, Frantisek, Scott, C. Ronald, Gelb, Michael H.
الحاوية / القاعدة Clin Chem (2015)

A Specific Substrate for the Assay of Lysosomal Acid Lipase

بواسطة Masi, Sophia, Chennamaneni, Naveen, Turecek, Frantisek, Scott, C. Ronald, Gelb, Michael H.
الحاوية / القاعدة Clin Chem (2018)

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

بواسطة Duffey, Trisha A., Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
منشور في 2010

Design and Synthesis of Substrates for Newborn Screening of Maroteaux-Lamy and Morquio A Syndromes

بواسطة Duffey, Trisha A., Khaliq, Tanvir, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
منشور في 2010

Quantification of Sulfatides in Dried Blood and Urine Spots From Metachromatic Leukodystrophy Patients by Liquid Chromatography/Electrospray Tandem Mass Spectrometry

بواسطة Barcenas, Mariana, Suhr, Teryn R., Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
منشور في 2013