| Fabry disease revisited: Management and treatment recommendations for adult patients |
58 |
| Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases |
24 |
| Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM) |
22 |
| Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre |
21 |
| Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders |
21 |
| European expert consensus statement on therapeutic goals in Fabry disease |
16 |
| Clinical presentation and diagnosis of mucopolysaccharidoses |
15 |
| Gene therapy for Mucopolysaccharidoses |
14 |
| Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria |
12 |
| Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis |
11 |
| Growth impairment in mucopolysaccharidoses |
11 |
| The challenge of CDG diagnosis |
11 |
| Aicardi goutieres syndrome is associated with pulmonary hypertension |
11 |
| The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts |
11 |
| Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2 |
10 |
| Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature |
10 |
| Molecular genetics and metabblism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA |
10 |
| Best practices for the use of intracerebroventricular drug delivery devices |
10 |
| Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis |
9 |
| 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease |
9 |
| Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling |
9 |
| Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3 |
9 |
| Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook |
9 |
| Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial |
9 |
| Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease |
9 |
| Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients |
9 |
| Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment |
9 |
| The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts |
9 |
| Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy |
9 |
| Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease |
9 |
| Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria |
8 |
| Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial |
8 |
| Heme biosynthesis and the porphyrias |
8 |
| A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease |
8 |
| Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency |
8 |
| Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial |
8 |
| Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy |
8 |
| Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism |
8 |
| Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability |
7 |
| Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study |
7 |
| Tissue acylcarnitine status in a mouse model of mitochondrial beta-oxidation deficiency during metabolic decompensation due to influenza virus infection |
7 |
| Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement |
7 |
| Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) |
7 |
| Acute hepatic porphyrias: Current diagnosis & management |
7 |
| Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropy1-beta-cyclodextrin |
7 |
| Congenital erythropoietic porphyria: Recent advances |
7 |
| Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases |
7 |
| Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation |
7 |
| Development and clinical consequences of white matter lesions in Fabry disease: a systematic review |
7 |
| Tandem mass spectrometry-based multiplex assays for alpha-mannosidosis and fucosidosis |
7 |
