Psychosine, a marker of Krabbe phenotype and treatment effect

Maria L. Escolar, Bridget Kiely, Emily P.R. Shawgo, +5

Molecular Genetics and Metabolism

Mental HealthPsychologySocial SciencesTranslational MedicineLaboratory Hematology +16

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Xinying Hong, Jessica Daiker, Martin Sadı́lek, +9

Genetics in Medicine

Toward Newborn ScreeningNeonatologyHematologyPediatricsHistopathology +6

Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction

Nadav I. Weinstock, Daesung Shin, Narayan Dhimal, +14

Neuron

InflammationMacrophage BiologyTranslational MedicineAutoimmune DiseaseImmunology +8

N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Rohini Sidhu, Yawo A. Mondjinou, Mingxing Qian, +13

Journal of Lipid Research

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

Liu Yang, Fan Yi, Arun Kumar, +5

Clinical Chemistry

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

Clifford Scott, Susan Elliott, Xinying Hong, +6

The Journal of Pediatrics

Molecular Diagnostic TechniquesNewborn ScreeningDried Blood SpotsMedicinePediatrics +3

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots

Xinying Hong, Jessica Daiker, Martin Sadı́lek, +7

Genetics in Medicine

Toward Newborn ScreeningLaboratory HematologyHematologyDiagnosisPathology +6

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

Xinying Hong, Arun Kumar, Jessica Daiker, +21

Analytical Chemistry

A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism

Xinying Hong, Martin Sadı́lek, Michael H. Gelb

Genetics in Medicine

Liquid Chromatography–Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

Na Lin, Jingyu Huang, Sara Violante, +14

Clinical Chemistry