MOLECULAR GENETICS AND METABOLISM

Safety, tolerability and pharmacokinetics of oral venglustat in Parkinson disease patients with a GBA mutation

Acute hepatic porphyrias: Current diagnosis & management.

Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.

Critical review of current MPS guidelines and management.

Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs.

5-Aminolevulinate synthase catalysis: The catcher in heme biosynthesis.

Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan.

Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism.

Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.

White matter lesions in treated late onset Pompe disease are not different to matched controls.

Clinical characterization of tremor in patients with phenylketonuria.

Efficacy of low dose nitisinone in the management of alkaptonuria.

The mitochondrial heme metabolon: Insights into the complex(ity) of heme synthesis and distribution.

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

Resolving complexity in mitochondrial disease: Towards precision medicine.

Controlled attenuation parameter and liver stiffness measurements using transient elastography by FibroScan in Gaucher disease.

Platform technology for treatment of the brain in lysosomal disorders: Application to Niemann-Pick disease type A

Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.

Multiplex DBS enzyme assay for MPS II, IIIB, IVA, VI, VII and CLN2 via LC-MS/MS expands clinical utility of DBS enzyme testing

Functional evaluation of an AAV9 based vector expressing alpha-galactosidase A for potential gene therapy of Fabry disease

The effects of long-term migalastat treatment in Fabry disease patients previously treated with enzyme replacement therapy who have migalastat-amenable variants with low alpha-galactosidase A response in the in vitro migalastat amenability assay

Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP.

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Improved brain uptake and efficacy of iduronate 2-sulfatase with the enzyme transport vehicle

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Fabry disease: Incidence of pathogenic GLA mutations estimated by newborn screening studies

Interfamily variability in patients with classical Fabry disease

Insights into Sanfilippo syndrome provided by the ConnectMPS worldwide online registry

Quantitative evaluation of white matter hyperintensities in the central nervous system in infantile Pompe disease

Mucopolysaccharide quantitation in urine by LC-MS/MS

Evaluating the content validity of the Diary of Irritable Bowel Syndrome Symptoms - Mixed (DIBSS-M) to assess gastrointestinal symptoms associated with Fabry disease

Distribution of chemically modified rhSulfamidase to CNS monitored by brain microdialysis and repeated CSF sampling after intravenous administration in rat

Functional, biochemical and transcriptional rescue of advanced Pompe disease in mice with liver expression of secretable GAA

Characterization of 4L/PS-NA mice for enzyme activity, substrate concentrations as well as inflammation to model Gaucher disease

The impact of newborn screening for lysosomal disorders in a non-screening adjacent state

Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Neuronal ceroid lipofuscinosis (NCL) types 1 and 2: Enzyme characteristics of PPT1 and TPP1, and their high risk and newborn screenings

Accreditation: A challenge for a research laboratory

NEO1 and NEO-EXT studies: Long-term safety of repeat avalglucosidase alfa dosing for 4.5 years in late-onset Pompe disease patients

Evidence-based, expert-agreed recommendations for the management of patients with MPS IVA/VI: Recommendations to replace the specific missing enzyme

Enzyme replacement therapy together with renin-angiotensin system inhibition seems to prevent kidney function decrease in most Finnish Fabry patients treated either for 5 or 10 years