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sialic acid storage disease/œdème
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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
Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.
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A case of recurrent hydrops fetalis, diagnosed on second trimester's ultrasonography, has led to the diagnosis of sialic acid storage disease. No classic etiology was found after the first accident. The recurrence in subsequent pregnancy raised the possibility of a storage disease that was confirmed
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease.
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Clinical spectrum of infantile free sialic acid storage disease.
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Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
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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
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
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Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from a severe presentation, infantile sialic acid storage disease (ISSD) which may present as hydrops fetalis, to a relatively mild form, Salla
Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.
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We report a case of infantile sialic acid storage disease (ISSD) in a black infant presenting in utero with nonimmune hydrops, ascites, and anemia requiring intrauterine transfusion. Upon birth, the patient had prominent edema, large anterior fontanelle, partial absence of the rectus abdominis,
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.
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Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked (free) sialic acid in multiple tissues. ISSD and Salla disease (a predominantly neurological disorder) are allelic disorders caused by recessive mutations of a lysosomal
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
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OBJECTIVE
Quantitative definition of the natural history of free sialic acid storage disease (SASD, OMIM 604369), an orphan disorder due to the deficiency of the proton-driven carrier SLC17A5.
METHODS
Analysis of published cases with SASD (N = 116) respecting STROBE criteria.
METHODS
survival and
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
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Sialic acids are important components of glycoproteins and glycolipids essential for cellular communication, infection, and metastasis. The importance of sialic acid biosynthesis in human physiology is well illustrated by the severe metabolic disorders in this pathway. However, the biological role
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