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Elevated plasma chitotriosidase activity in various lysosomal storage disorders
Investigation of 24 different lysosomal storage diseases shows that marked elevation of chitotriosidase activity in plasma appears to be specific for Gaucher disease, and suggests that elevated levels in plasma from patients with unexplained diseases may be indicative for a lysOSomal disorder. Expand
A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate
A novel assay for ASM combines the ease of a rapid and robust enzyme assay using a fluorogenic substrate with the specificity of an ASM assay using an unlabelled natural substrate, in particular lysosphingomyelin. Expand
Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?
The possible role of mutation analysis in the prenatal diagnosis of GSD II is discussed in the light of the previous experience from a series of 100 prenatal diagnoses for this disorder by enzyme analysis. Expand
Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human -Glucosidase From Milk
The long-term safety and effectiveness of recombinant human -glucosidase from rabbit milk for the treatment of the lysosomal age disorder Pompe disease was tested andotypes of patients were consistent with the most severe form of Pompe disease. Expand
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)
A normal level of α-N-acetylglucosaminidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl-α-N -acetylgluco-saminide formed by the GlcNAc-6S sulphatase. Expand
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)
Using the β-anomer, fibroblasts and leukocytes from 11 different Sanfilippo C patients showed <1% of mean normalN-acetyltransferase activity, and a second incubation in the presence of excess β-hexosaminidase is needed to avoid underestimation of theN- acetyl transferase activity. Expand
Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation
In a large five‐generation Polish family, late‐onset ornithine transcarbamylase (OTC) deficiency in males segregated with the missense mutation Ala208Thr (A208T), and all heterozygous females wereExpand
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology
J. Mourmans, P. van Diggelen, T. Suormala, R. Baumgartner, U. Wendel, and U. Wevers are reported on for the first time in what is likely to be a first-of-its-kind study of its type. Expand
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
Screening for urine tetraglucoside excretion and the measurement of serum cholesterol in patients with growth delay and/or hepatomegaly to assess a possible glycogenosis are proposed. Expand