Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB)...
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Mucopolysaccharidosis (redirect from Mucopolysaccharidosis type I Hurler syndrome)
severe form of Morquio syndrome may not live beyond their twenties or thirties. Children with MPS VI, Maroteaux–Lamy syndrome, usually have normal intellectual...
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Marfan syndrome Marfanoid–progeroid–lipodystrophy syndrome Marie Antoinette syndrome Marinesco–Sjögren syndrome Maroteaux–Lamy syndrome Marshall syndrome Marshall–Smith...
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designation of Scheie syndrome. Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) Maroteaux–Lamy syndrome (MPS VI) James WD...
16 KB (1,783 words) - 18:12, 29 October 2024
1.6.12) is an enzyme associated with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Arylsulfatase B is among a group of arylsulfatase enzymes present...
20 KB (1,828 words) - 18:29, 9 June 2024
List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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with Maroteaux-Lamy syndrome living in the United States under deferred action. Bueso was born in Guatemala. She was diagnosed with Maroteaux-Lamy syndrome...
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in Elmhurst, Illinois. He was diagnosed at the age of one with Maroteaux–Lamy syndrome, which in his case resulted in developing an appearance much like...
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have been reported in Maroteaux-Lamy syndrome, cleidocranial dysplasia and Gardner's syndrome In the absence of these syndromes, the occurrence of multiple...
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causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome". Human Mutation. 7 (4): 361–3. doi:10.1002/(SICI)1098-1004(19...
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his hat. Even thought the press sometimes attributed to him the Maroteaux–Lamy syndrome, he states that he doesn't suffer from any genetical disease. On...
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Naglazyme) (galsulfase), a recombinant protein therapeutic for Maroteaux–Lamy syndrome (also called mucopolysaccharidosis type VI) Iduronidase (branded...
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lipase deficiency (chylomicronemia, chylomicronemia syndrome) Macular amyloidosis Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI) Medication-induced...
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syndrome Maroteaux–Verloes–Stanescu syndrome Maroteaux–Lamy syndrome Marphanoid syndrome type De Silva Marsden–Nyhan–Sakati syndrome Marsden syndrome...
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Morquio syndrome) MPS VI Mucopolysaccharoidosis type VI (see Maroteaux–Lamy syndrome) MPS VII Mucopolysaccharoidosis type VII (see Sly syndrome) MPX Monkeypox...
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(Morquio) MPS IVA (Type A) MPS IVB (Type B) Type VI (Maroteaux–Lamy syndrome) Type VII (Sly syndrome) Type IX (hyaluronidase deficiency) Mucolipidosis Type...
18 KB (1,831 words) - 14:49, 30 October 2024
sulfate deficiency) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) Maroteaux–Lamy syndrome (MPS VI) Sly syndrome (MPS VII) Glycoproteinoses Mucolipidosis...
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Pycnodysostosis (redirect from Toulouse-Lautrec Syndrome)
is also known as PKND and PYCD. The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics:...
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Marfan syndrome; 154700; FBN1 Marinesco–Sjögren syndrome; 248800; SIL1 Maroteaux–Lamy syndrome, several forms; 253200; ARSB Marshall syndrome; 154780;...
234 KB (18,877 words) - 15:43, 9 May 2024