gangliosidoses/edema

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12 rezilta yo

Fetal hydrops in GM(1) gangliosidosis: a case report.

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GM(1) gangliosidosis is a rare disorder characterized by deficiency of the ss-galactosidase enzyme, with the resulting accumulation of glycolipids, oligosaccharides and especially GM(1) ganglioside. It can be classified into three clinical types according to the time of onset: infantile, juvenile

Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis.

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The authors report a case of unsuspected fetal storage disorder initially diagnosed by placental examination performed because of a transient ascites at 28 weeks of gestation. At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase

GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report.

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We report a new case of GM1-gangliosidosis diagnosed in a 5 months old baby who was admitted at birth to our Neonatology Unit because of congenital ascites. The antenatal diagnostic techniques, including ultrasound, maternal antibody screen and fetoscopy with fetal karyotyping, as well as postnatal

Lysosomal storage disease as an etiology of nonimmune hydrops.

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We performed a systematic review of the literature to evaluate the incidence and types of lysosomal storage disorders (LSDs) in case series of nonimmune hydrops (NIH). PubMed and Ovid were reviewed for case series evaluating the workup of NIH diagnosed in utero or in the neonatal period in human

Lysosomal storage diseases presenting as transient or persistent hydrops fetalis.

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Two cases of beta-glucuronidase deficiency (mucopolysaccharidosis VII), presented with fetal hydrops at 20 and 26 weeks of gestation. The enzyme deficiency was observed in cultured amniotic fluid cells and in fetal plasma from cord-blood and was confirmed after termination of pregnancy. A third case

A case of GM1 gangliosidosis type I.

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A six-month-old female gypsy child, the daughter of second degree cousins, born after a full-term pregnancy and normal delivery, is described. There was generalized neonatal edema. Abnormalities included psychomotor retardation from birth and progressive appearance of facial dysmorphism, organ

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

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.

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Diagnosis of GM1 gangliosidosis (OMIM 230500) is usually based on the presence of physical signs of storage such as coarse facial features, corneal clouding, cherry red macula, hepatosplenomegaly and skeletal dysostosis. More rarely it can present as nonimmune hydrops. We describe a male patient

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

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OBJECTIVE Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

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Prenatal diagnosis is available for many lysosomal storage disorders (LSD) using chorionic villus samples or amniocytes. Such diagnoses can be problematical if sample transport and culture are required prior to analysis. The purpose of this study was to identify useful biochemical markers for the

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

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BACKGROUND The first step in the diagnosis of oligosaccharidoses is to evidence abnormal oligosaccharides excreted in urine, usually performed by the poorly sensitive but efficient thin layer chromatography (TLC) method. Developing a tandem mass spectrometry (MS/MS) technique could be of great

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

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BACKGROUND The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODS We developed a sensitive

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