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lysosomal storage diseases/otok
Веза се чува у привремену меморију
Страна 1 од 52 резултати
[Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases].
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As a result of the decreased incidence of immunological hydrops fetalis and increased insight, the role of inborn errors of metabolism (IEM) as a cause of hydrops fetalis has acquired increased significance. This growing awareness of the manifestation of IEM in pregnancy has revealed that some 20 of
Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.
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OBJECTIVE
Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast
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
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
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BACKGROUND
At least 20 inborn errors of metabolism may cause hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for prenatal diagnosis of non-immune hydrops fetalis.
METHODS
This study contains a series of 75 non-immune hydrops fetalis
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).
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Seventy amniotic fluids (AF) were sampled because of abnormal ultrasound findings (mainly non-immune hydrops fetalis (54 cases) or of the presence of vacuolated lymphocytes in fetal blood (3 cases)). They were analysed by a procedure involving AF supernatant analysis (glycosaminoglycans,
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
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases.
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Reply-nonimmune hydrops fetalis and lysosomal storage diseases.
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Nonimmune hydrops fetalis and lysosomal storage diseases.
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Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.
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Nonimmune hydrops fetalis is the most severe clinical manifestation of lysosomal storage diseases (LSDs). Around 14 different LSDs have been accounted for as 1-15% of the cause of nonimmune hydrops fetalis. We report a Korean infant affected by an extremely rare but severe form of sialic acid
Prenatal diagnosis of lysosomal storage diseases using fetal blood.
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Lysosomal storage diseases are a rare but significant cause of non-immune hydrops fetalis (NIHF). In 17 cases of NIHF detected by ultrasound, the activity of five lysosomal enzymes was measured in leukocytes or plasma of 1 ml of fetal blood obtained by cordocentesis. By this approach seven lysosomal
[Diagnosis of lysosomal storage diseases with fetal presentation].
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In metabolic diseases with fetal presentation, lysosomal storage disorders represent a fairly homogeneous group. Hydrops fetalis or ascites is the main but non specific symptom. The relative frequency of lysosomal storage diseases in this context is not well known and probably underestimated. They
Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.
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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
Association between mucopolysaccharidosis Type VII and hydrops fetalis.
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Hydrops Fetalis (HF) is a serious pregnancy complication defined by edema in two or more fetal compartments, typically in the first or second trimesters. Nearly 90% of cases are attributed to non-immune causes (NIHF) and include a wide number of pathologies: cardiac abnormalities, chromosomal
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
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A 37-year-old woman presented for routine obstetrical care at 15 weeks' gestational age and the fetus was found to have hydrops fetalis. Following elective termination of the pregnancy at 18 weeks' gestational age, pathologic examination of the female conceptus revealed findings suggestive of a
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