Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years. (Maroteaux‐Lamy syndrome, type B)
Explore this paper's citation graph
Summary
Two brothers, aged 40 and 38 years, suffered from dysplastic features, coarse facies, bone and skeletal abnormalities, deformities of spine, and joint impairments, and had signs of cervical and lumbar radiculopathy and cervical myelopathy.
- Type
- article
- Published
- 1979-10-01
- Cited by
- 36
- References
- 48
- OpenAlex
- https://openalex.org/W2041012078
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:27815934
Keywords
Vacuole, Endocrinology, Dermatan sulfate, Internal medicine, Pathology
References
- Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate.
- Myelopathy associated with Maroteaux-Lamy syndrome.
- [A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B].
- N-Acetylglucosamine-6-sulfate sulfatase from human urine.
- Kolorimetrische mikromethode zur bestimmung des gesamteiweisses in eiweissarmen flüssigkeiten
- CORRECTIVE FACTORS FOR INBORN ERRORS OF MUCOPOLYSACCHARIDE METABOLISM
- Sequential thin layer chromatography of urinary acidic glycosaminglycans.
- Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome.
- A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI).
- Arylsulphatase B (maroteaux‐lamy factor): A part of the enzyme system responsible for sulphate release from mucopolysaccharide fragment
- Arylsulfatase B Deficiency in Maroteaux-Lamy Syndrome: Cellular Studies and Carrier Identification
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): I. Sulfatase B Deficiency in Tissues
- Morphologic alterations in nucleated blood and marrow cells in genetic disorders
- The assay of arylsulphatases A and B in human urine.
- Mucopolysaccharidosis III A (Sanfilippo A disease): Deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes
- Maroteaux-Lamy syndrome: repository identification nos. GM-519,520,935,943, and 1022.
- The ultrastructure of the sural nerve in Pompe's disease
- The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.
- Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome.
- Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.
Cited by
- Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
- Análisis genético y molecular del síndrome de Maroteaux-Lamy
- Análise de mutações no gene arilsulfatase B em pacientes com mucopolissacaridose tipo VI do Brasil : definição de uma possível origem comum em Monte Santo/BA
- Ultrastructure of lymphocytes and skin in mucopolysaccharidosis IV A (Morquio syndrome).
- Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation.
- Mental retardation in a patient with Maroteaux‐Lamy
- Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
- Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
- Intra-Articular Enzyme Administration for Joint Disease in Feline Mucopolysaccharidosis VI: Enzyme Dose and Interval
- Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy
- Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome)
- Glaucoma in the Maroteaux-Lamy syndrome.
- Valvular Heart Disease in Four Patients With Maroteaux‐Lamy Syndrome
- Mucopolysaccharidosis: thickening of dura mater at the craniocervical junction and other CT/MRI findings
- Compressive myelopathy in maroteaux‐lamy syndrome: Clinical and pathological findings
- Choroba Maroteaux-Lamy’ego (mukopolisacharydoza typu VI): obraz kliniczny, diagnostyka i leczenie ☆ ☆☆ ☆☆☆
- Polscy pacjenci z chorobą Maroteaux-Lamy’ego (mukopolisacharydozą typu VI) ☆ ☆ ☆
- CHANGES IN THE VOLUNTARY MUSCLES AND THE PERIPHERAL NERVES IN AN AUTOPSY CASE OF MPS TYPE II (HUNTER)
- Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe
- New insights in mucopolysaccharidosis type VI: neurological perspective.
Related papers
- Exogenous glucocorticoids and a high-fat diet cause severe hyperglycemia and hyperinsulinemia and limit islet glucose responsiveness in young male Sprague-Dawley rats.
- The effect of fasting on tissue cyclic cAMP and plasma glucagon in the obese hyperglycemic mouse.
- Modulation of adipoinsular axis in prediabetic zucker diabetic fatty rats by diazoxide.
- Mechanisms of impaired growth hormone secretion in genetically obese Zucker rats: roles of growth hormone-releasing factor and somatostatin.
- Growth hormone binding protein in the rat: effects of gonadal steroids.
- The paraventricular nucleus of the hypothalamus has a major role in thyroid hormone feedback regulation of thyrotropin synthesis and secretion.
- Hypothalamo-hypophysial-thyroid axis in streptozotocin-induced diabetes.
- Hypothalamo-hypophysial-thyroid axis in streptozotocin-induced diabetes
- The impact of euglycemia and hyperglycemia on stimulated pituitary hormone release in insulin-dependent diabetics.
- Role of ghrelin in streptozotocin-induced diabetic hyperphagia.