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- 2017
-
Mark
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders
(
- Contribution to journal › Article
- 2015
-
Mark
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
(
- Contribution to journal › Article
- 2013
-
Mark
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2010
-
Mark
Fatal cerebral edema associated with serine deficiency in CSF
(
- Contribution to journal › Article
- 2007
-
Mark
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
(
- Contribution to journal › Article