Neuraminidase 1 deficiency

01/01/2022 - "Inhibition of SIRT1 activity or PGC-1α activity eliminated the beneficial effects of cardiomyocyte-specific NEU1 deficiency. "
01/01/2022 - "Cardiomyocyte-specific NEU1 deficiency increased the expression of SIRT1, PGC-1α, and mitochondrial transcription factor A (TFAM); which improved mitochondrial metabolism and oxidative stress. "

09/01/1988 - "A 14-year-old Saudi boy with cherry red spot-myoclonus syndrome and documented neuraminidase deficiency responded well to titrated doses of 5-hydroxytryptophan as an add-on treatment."

06/01/2011 - "Topiramate is effective for status epilepticus and seizure control in neuraminidase deficiency."

01/01/2022 - "Cardiomyocyte-specific NEU1 deficiency increased the expression of SIRT1, PGC-1α, and mitochondrial transcription factor A (TFAM); which improved mitochondrial metabolism and oxidative stress. "

02/01/1984 - "Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts."
01/01/1982 - "[Six adult cases of beta-galactosidase--neuraminidase deficiency in three families.--Clinical and enzymological studies with review of literature]."
01/01/1982 - "Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients."
01/01/1987 - "Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency."
07/01/1985 - "[Skin and conjunctival biopsies in adult type beta-galactosidase neuraminidase deficiency]."

08/18/1982 - "Kinetic studies of 4-methylumbelliferyl neuraminidase activity were carried out in cultured skin fibroblasts from patients with various disorders of neuraminidase deficiency. "
01/01/2021 - "To describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated 'macular cherry-red spot'. "
07/01/1995 - "Then, the diagnosis of sialidosis type I was confirmed by low activity of white blood cell sialidase. "
07/01/1995 - "We report a new Japanese family of sialidosis type I. The sialidase activity was deficient in the lymphocytes of 2 patients (6.8% (sister) and 12.5% (brother) of control mean). "
12/01/1989 - "A storage disease with deficiency of neuraminidase activity, sialidosis type II, was confirmed. "

07/01/1995 - "These two are the eighth and ninth cases of sialidosis type I in Japan to be confirmed by enzyme activity."
02/01/1983 - "A culture of the proband's fibroblasts showed neuraminidase deficiency, and low activity of the enzyme was found in the lymphocytes of both parents. "
04/03/1979 - "Neuraminidase deficiency in this case seems the primary enzyme defect because the enzyme activity of her parents was intermediate. "
10/01/1980 - "Biochemical study showed an alpha-neuraminidase deficiency in cultured fibroblasts: the decrease in this enzyme activity was compared to that found in a patient affected by mucolipidosis III."
06/26/1979 - "The substrate was employed for the characterization of the enzyme in sonicates of cultured human skin fibroblasts and for enzymatic detection of the neuraminidase deficiency in the neurological storage disorder, sialidosis. "

01/01/2016 - "Of special interest is the observation that normal urinary sialic acid levels do not exclude neuraminidase deficiency. "
01/01/2016 - "Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion."
01/01/2010 - "This is the first autopsy demonstration of sialic acid in the lamellar materials and of a developmental abnormality in isolated sialidase deficiency. "
04/01/2006 - "Sialidosis is an autosomal recessive disease caused by neuraminidase deficiency, which causes material rich in sialic acid to accumulate in various tissues and organs, leading to morphological and functional changes. "
02/05/1981 - "The total sialic acid content of fibroblasts and leukocytes from mucolipidosis I and sialidosis I patients is greatly elevated; this parameter is useful in establishing a diagnosis of sialidase deficiency. "

10/01/2007 - "Lysosomal diseases were classified into 3 groups: (1) leukodystrophies (metachromatic leukodystrophy, Krabbe's disease and Salla's disease); (2) Neurodegenerative or psychiatric-like diseases (GM1 and GM2 gangliosidoses, Niemann Pick type C disease, sialidosis type I, ceroid-lipofuscinosis, mucopolysaccharidosis type III); (3) multisystemic diseases (Gaucher's disease, Fabry's disease, alpha and B mannosidosis, Niemann Pick disease type B, fucosidosis, Schindler/Kanzaki disease, and mucopolysaccharidosis type I and II. We propose a diagnostic approach guided by clinical examination, brain MRI, electrodiagnostic studies and abdominal echography."

01/01/2019 - "We report the clinical, biochemical, and molecular characterization of a patient with infantile sialidosis type II. The abnormal urinary oligosaccharide profile is described for the first time. "
02/01/1988 - "Analysis of deproteinized amniotic fluid showed the presence of abnormal oligosaccharides specific for alpha-neuraminidase deficiency."
03/01/2017 - "We report on the diagnostic work-up in a boy with sialidosis type I, presenting initially with marked cherry red macular spots but non-specific urinary oligosaccharide patterns and unusually mild excretion of bound sialic acid. "
05/01/1980 - "It is suggested that the main disturbance in the present case might be the catabolic process of glycoproteins and oligosaccharides due to neuraminidase deficiency."
03/04/2021 - "Sialidosis is an autosomal recessive glycoprotein storage disorder, caused by neuraminidase deficiency which leads to abnormal intracellular accumulation and urinary excretion of sialylated oligosaccharides, resulting in various morphological and functional disorders. "

11/13/2020 - "Correction: Intermittent enzyme replacement therapy prevents Neu1 deficiency."
01/01/2020 - "Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency"
01/01/2020 - "A regimen of intermittent enzyme replacement therapy dosing with rhβ-Gal, followed by enzyme withdrawal, is sufficient to augment β-Gal activity levels in GM1 gangliosidosis patient fibroblasts without promoting NEU1 deficiency. "

03/01/2022 - "Hematopoietic cell transplantation for sialidosis type I."