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hydrops fetalis/asthenia

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Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

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We describe the long-term follow-up of a patient with severe nemaline myopathy due to a novel homozygous mutation in the Leiomodin 3 (LMOD3) gene and describe the histopathological characteristics of the disease. The patient presented at birth with hydrops fetalis, multiple joint contractures,

Management and outcome in prenatally diagnosed sacrococcygeal teratomas.

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BACKGROUND The aim of the present study was to retrospectively determine the clinical factors affecting the outcome after birth in prenatally diagnosed sacrococcygeal teratomas (SCT). METHODS Six cases of prenatal SCT were identified from January 1985 until August 2005. A retrospective review of

A rare late progression form of Sly syndrome mucopolysaccharidosis.

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Mucopolysaccharidoses VII, or Sly syndrome, is linked to mutations in the beta-glucuronidase encoding gene. Sly syndrome is a rare condition and presentation is highly variable, ranging from a prenatal form with severe, lethal fetal hydrops to more benign adolescent or adult forms with simple

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

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Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype
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