Chemical studies of Farber's disease.
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Adult↗
Biomedical subjects
S Rampini
Publications and source records attributed to S Rampini.
[Combination of metachromatic leucodystrophy and mucopolysaccharidosis: a disease entity (mucosulfatidosis)].
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Blindness↗
[Late Hurler's disease. Ullrich-Scheie syndrome, mucopolysaccharidosis V].
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Adolescent↗
Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis.
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Adolescent↗
[The Sanfilippo syndrome (polydystrophic oligophrenia, HS-mucopolysaccharidosis). Report on 8 cases and review of the literature].
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Body Height↗
[Enzyme defects and nutrition].
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Biological Transport↗
[XX/XO-mosaicism in a male individual with small stature and hypospadias].
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Adult↗
Effect of hydrochlorothiazide on proximal renal tubular acidosis in a patient with idiopathic "de toni-debré-fanconi syndrome".
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Acidosis↗
[Heterozygote identification in phenylketonuria].
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Heterozygote↗
[Management of hypochloremic metabolic alkalosis in pediatrics. The role of chlorine].
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Alkalosis↗
[Farber's disease (disseminated lipogranulomatosis). Clinical picture and summary of the chemical findings].
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Adult↗
[Hereditary hyperglycinemia. Clinical picture and determination of glycoxylic and oxalic acids in the urines of one patient each with acidotic and nonacidotic form].
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Acidosis↗
[An uncommon phenotype of Hurler's syndrome].
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Body Height↗
[Differentiation of different types of mucopolysaccharidosis by vertebral body and intervertebral disk indices].
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Carbohydrate Metabolism, Inborn Errors↗