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The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease.

Structural and functional changes in peripheral vasculature of Fabry patients.

Nutrient intake in lysinuric protein intolerance.

Nutrient intake in lysinuric protein intolerance.

Nutrient intake in lysinuric protein intolerance.

Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.

Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.

Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.

Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.

Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.

A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.

Combined hyperlipidemia in patients with lysinuric protein intolerance.

Combined hyperlipidemia in patients with lysinuric protein intolerance.

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.

Biomarkers for mitochondrial respiratory chain disorders.

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease.

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Structural and functional changes in peripheral vasculature of Fabry patients.

Structural and functional changes in peripheral vasculature of Fabry patients.

CCL18: A urinary marker of Gaucher cell burden in Gaucher patients.

Structural and functional changes in peripheral vasculature of Fabry patients.

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease

An international classification of inherited metabolic disorders (ICIMD)

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease

Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA

Osteoporosis in lysinuric protein intolerance

Nutrient intake in lysinuric protein intolerance

Cytosolic PEPCK deficiency: Expanding the clinical phenotype and novel laboratory findings

Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study

Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL)