No abstract available
MeSH terms
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Adolescent
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Adult
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Amniotic Fluid / analysis
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Carbohydrate Metabolism, Inborn Errors / classification*
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Carbohydrate Metabolism, Inborn Errors / complications
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Carbohydrate Metabolism, Inborn Errors / diagnosis
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Carbohydrate Metabolism, Inborn Errors / therapy
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Child
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Child, Preschool
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Chromosome Aberrations / complications
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Chromosome Aberrations / diagnosis
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Chromosome Disorders
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Diagnosis, Differential
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Dwarfism / complications
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Dwarfism / diagnosis
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Female
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Fetal Diseases / diagnosis
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Fibroblasts / analysis
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Glycosaminoglycans / metabolism*
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Glycosaminoglycans / urine
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Humans
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Hypertrichosis / complications
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Hypertrichosis / diagnosis
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Infant
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Intellectual Disability / complications
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Intellectual Disability / diagnosis
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Joint Diseases / complications
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Joint Diseases / diagnosis
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Karyotyping
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Middle Aged
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Mucopolysaccharidoses / complications
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Mucopolysaccharidoses / diagnosis
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Mucopolysaccharidoses / genetics
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Mucopolysaccharidosis IV / complications
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Mucopolysaccharidosis IV / diagnosis
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Pregnancy
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Prognosis
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Retinitis Pigmentosa / complications
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Retinitis Pigmentosa / diagnosis