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Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
TLDR
Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients with MPSIII expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior, in contrast to relatively homogeneous early onset manifestations.
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Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II
TLDR
The outcome of the analysis underscores the notion that the clinical phenotype of GSDII is largely dictated by the nature of the mutations in the GAA alleles, which makes DNA analysis a valuable tool to help predict the clinical course of the disease.
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Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
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Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B
TLDR
The results confirm the high impact of Trp 273 for the function of β-galactosidase and the expression of the Morquio B phenotype and suggest a second domain around the amino acids 400–500 may also be of significance.
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The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update
TLDR
Increased plasma chitotriosidase activity was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.
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The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
TLDR
Nine mutations were found in the aspartoacylase gene of 19 non-Jewish patients, and the A305E mutation is pan-European and probably the most ancient mutation, identified in patients of Greek, Polish, Danish, French, Spanish, Italian, and British origin.
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Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children
TLDR
Comparison of the effects of administration of antibiotics on gut bacterial production of trimethylamine from choline showed they all reduced TMA production to a limited extent, with neomycin being most effective.
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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
TLDR
This update reports on 94 variants of Pompe Disease and examined 35 novel and 34 known mutations by site‐directed mutagenesis and transient expression in COS‐7 cells or HEK293T cells to classify 55 missense mutations as pathogenic and 13 as likely nonpathogenic.
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Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
TLDR
Investigating the effects of pharmacological inhibition of GCase on ASYN accumulation/aggregation, as well as on lysosomal function, in differentiated SH-SY5Y cells and in primary neuronal cultures suggests that additional interaction pathways together with aberrant GCase and ASYN must govern this complex relation between GD and PD.
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β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
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