| The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts |
24 |
| Living with Phenylketonuria: Lessons from the PKU community |
14 |
| Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening |
14 |
| Living with phenylketonuria in adulthood: The PKU ATTITUDE study |
12 |
| Biomarkers in patients with mucopolysaccharidosis type II and IV |
11 |
| A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan |
9 |
| Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis |
9 |
| Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral L-carnitine |
8 |
| Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data |
7 |
| Fabry disease in a Japanese population-molecular and biochemical characteristics |
7 |
| Parkinson's disease prevalence in Fabry disease: A survey study |
7 |
| Characterization of glycan substrates accumulating in GM1 Gangliosidosis |
7 |
| Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong |
6 |
| Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory |
6 |
| Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement |
6 |
| The impact of consanguinity on the frequency of inborn errors of metabolism |
6 |
| Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia |
6 |
| Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals |
6 |
| Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey |
6 |
| Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1 |
5 |
| S-adenosylhomocysteine hydrolase over-expression does not alter S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient mice |
5 |
| Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease |
5 |
| Benefits of prophylactic heme therapy in severe acute intermittent porphyria |
5 |
| Feasibility of cellular bioenergetics as a biomarker in porphyria patients |
5 |
| Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice |
5 |
| Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency |
5 |
| Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders |
5 |
| Early feeding practices in infants with phenylketonuria across Europe |
4 |
| L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency |
4 |
| Natural history of Morquio A patient with tracheal obstruction from birth to death |
4 |
| Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey |
4 |
| Molecular based newborn screening in Germany: Follow-up for cystinosis |
4 |
| High incidence of low vitamin B12 levels in Estonian newborns |
4 |
| Effects of cold exposure on metabolites in brown adipose tissue of rats |
4 |
| Sex differences in body composition and bone mineral density in phenylketonuria: A cross-sectional study |
4 |
| Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy |
4 |
| Disease progression of alpha-mannosidosis and impact on patients and carers - A UK natural history survey |
4 |
| The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA: A longitudinal analysis |
4 |
| Very rare condition of multiple Gaucheroma: A case report and review of the literature |
4 |
| Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders |
3 |
| Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan |
3 |
| Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program |
3 |
| De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome |
3 |
| Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy |
3 |
| Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events |
3 |
| Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes |
3 |
| Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition |
3 |
| A novel variant m.8561C > T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs |
3 |
| Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation |
3 |
| Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers |
2 |
