mucopolysaccharidoses/edema

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Recurrent fetal hydrops due to mucopolysaccharidoses type VII.

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Prijava / prijava

Hydrops fetalis is associated with a wide range of abnormalities. In about 20% of cases of non-immune fetal hydrops, no cause is found despite investigations including routine post-mortem examination and enzyme studies may be indicated to detect an underlying metabolic storage disease. Fetal hydrops

Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema.

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Prijava / prijava

Mucopolysaccharidosis type I (MPS I or Hurler syndrome) is a multisystem genetic disorder caused by α-L-iduronidase (IDUA) deficiency, which leads to widespread accumulation of glycosaminoglycans triggering tissue damage and organ dysfunction. A variety of ocular manifestations have been described

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

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Prijava / prijava

Although not all mucopolysaccharidosis type VII (MPS VII) neonates present with hydrops fetalis or with related symptoms, hydrops fetalis is a common form of presentation of this mucopolysaccharidosis. We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human

Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings.

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Prijava / prijava

Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. We describe a family case of beta-glucuronidase deficiency with 3 consecutively affected siblings. The three fetuses showed hydrops at a very early stage. In

Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.

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Prijava / prijava

BACKGROUND Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal

Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications.

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Prijava / prijava

A case of mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) causing fatal hydrops fetalis in the third trimester is presented. The diagnosis was suspected on histopathological examination by the presence of foam cells in many of the viscera and foamy change in the placental

Association between mucopolysaccharidosis Type VII and hydrops fetalis.

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Prijava / prijava

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

Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

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Prijava / prijava

Four prior mutations have been reported in three patients with beta-glucuronidase deficiency mucopolysaccharidosis (MPS VII), none of whom had the severe, infantile, hydropic form of the disease. We identified two mutations in the first reported case of nonimmune hydropic MPS VII whose cultured

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.

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Prijava / prijava

We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as beta-glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. beta-Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested

A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.

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Prijava / prijava

Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis.

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Prijava / prijava

Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune fetal hydrops: study of a family and technical approach to prenatal diagnosis in early and late pregnancy.

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Prijava / prijava

Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis.

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Prijava / prijava

Lysosomal storage disease as an etiology of nonimmune hydrops.

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Prijava / prijava

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

Ocular changes in the mucopolysaccharidoses after bone marrow transplantation. A preliminary report.

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Prijava / prijava

Metabolic correction and physiologic response were evaluated after bone marrow transplantation in mucopolysaccharidosis. Eleven patients were prospectively evaluated to determine the effect of bone marrow transplantation on the progressive ocular manifestations of these disorders. Follow-up of 0.6

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