mucolipidoses/edema

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Faqja 1 nga 19 rezultatet

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.

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Identifikohuni Regjistrohu

Non-immune hydrops fetalis is the most severe presenting feature of lysosomal storage disorders. However, it is difficult to identify the underlying condition because the different lysosomal storage diseases share many clinical features. A neonate with hydrops fetalis is described here. A lysosomal

[Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis].

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Two cases of non-immunological hydrops fetalis (NIHF) presenting with massive ascites are reported; in both patients an oligosaccharid-pattern in the urine typical for sialidosis resp. galactosialidosis was found. The cerebral sonography of both patients showed streaky echo enhancement in the region

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.

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Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations in the gene for lysosomal alpha-neuraminidase (NEU1). There is wide variability in the age of onset and severity of symptoms in sialidosis. We

Pathologic quiz case: a 5-day-old boy with hydrops fetalis. Mucolipidoses I (Sialidosis III).

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Nonimmune hydrops fetalis may be associated with an elevated delta OD450 in the amniotic fluid.

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Nonimmune hydrops fetalis may be associated with an elevated amniotic fluid delta OD450. Cases of I-cell disease (mucolipidosis II), lethal multiple pterygium syndrome, and alpha-thalassemia are presented, each associated with nonimmune hydrops fetalis and an elevated delta OD450. An elevated delta

Congenital sialidosis.

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Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue. Elevated levels of sialooligosaccharides in the urine is

Pathological study on a severe sialidosis (alpha-neuraminidase deficiency).

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A 56-day-old infant with alpha-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in severe infantile sialidosis, was autopsied. Perforation, whose pathogenesis was unclear, was found on the descending portion of the duodenum.

Niemann-Pick disease associated with nonimmune hydrops fetalis.

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The number of metabolic disorders associated with nonimmune hydrops fetalis is very small and includes only Gaucher disease, GM1 gangliosidosis type 1, Hurler syndrome, and mucolipidosis type I. We report another association of a nonimmune hydrops fetalis with Niemann-Pick disease as evident by

Neuraminidase deficiency presenting as non-immune hydrops fetalis.

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A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the

[Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid].

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Non immune hydramnios and fetal ascite are demonstrated at 31 weeks gestation. There is no familial story. All etiologic investigations (repeated ultrasonographic examinations, amniocentesis) are negative. The delivered girl has a normal development. She presents a congenital ascite and edema. The

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.

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Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened

Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia

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Background: Mutation of the NEU1 sialidase gene is the etiology of sialidosis, a storage disorder with a plethora of systemic manifestations ranging from ocular abnormalities, bone pathologies, and ataxia (sialidosis type I) to

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.

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Neuraminidase initiates the hydrolysis of sialo-glycoconjugates by removing their terminal sialic acid residues. In humans, primary or secondary deficiency of this enzyme leads to two clinically similar neurodegenerative lysosomal storage disorders: sialidosis and galactosialidosis (GS). Mice

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

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Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

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Identifikohuni Regjistrohu

BACKGROUND Sialic acid storage diseases (SASDs) are caused by the defective transport of free sialic acid outside the lysosome. Apart from the Salla presentation in Finland, SASD is a very rare form of lysosomal storage disease (LSD) with approximately 35 cases, all diagnosed after birth, having

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