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References in periodicals archive ?
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III.
Ben-Asher et al., "Identification of the gene causing mucolipidosis type IV"' Nature Genetics, vol.
(1986) Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.
Mucolipidosis IV requires two mutations to be analyzed.
Mucolipidosis type III [alpha]/[beta] is a rare autosomal recessive lysosomal storage disease with prominent skeletal involvement.
[3] Nonstandard abbreviations: LSD, lysosomal storage disease; FOS, free oligosaccharides; MS, mass spectrometry; AGU, aspartylglucosaminuria; ANTS, 2-aminonaphthalene trisulfone; GlcNAc, N-acetylglucosamine; MALDI-TOF/TOF, MALDI-time-of-flight/time-of-flight; DHB, 2,5-dihydroxybenzoic acid; TFA, trifluoroacetic acid; Asn, asparagine; ML, mucolipidosis; GNPT, GlcNAc phosphotransferase.
360-MHz 1H nuclear-magnetic-resonance spectroscopy of sialyl-oligosaccharides from patients with sialidosis (mucolipidosis I and II).
The mouth will offer the clinician important clues for the diagnosis of several genetic diseases, Some oral-cavity findings may lead to early diagnosis of a genetic disorder, such as the typical gingival (gum) enlargement seen in mucolipidosis II.
360-MHz 1H nuclear-magnetic-resonance spectroscopy of sialyloligosaccharides from patients with sialidosis (mucolipidosis I and II).
They all had children with a mucopolysaccharidosis (MPS) or mucolipidosis (ML) disorder.
Mucopolysaccharidosis (MPS), [1] oligosaccharidosis, and mucolipidosis (MLP) II and III are expressed as progressive storage diseases that share many clinical features, such as coarse face, hepato-splenomegaly, bone dysplasia, and claw-hand deformities.
Palmdale, CA 93551 (805) 267-2570 (voice/fax) ?? us/ 1,2,3,6,8,9 MONOSOMY X See: Turner Syndrome MORQUIO SYNDROME See: Mucopolysaccharidosis; Tay-Sachs Disease MORVAN DISEASE See: Syringomyelia MOTOR-SENSORY NEUROPATHY, HEREDITARY See: Charcot-Marie-Tooth Disease MOYAMOYA DISEASE See: Stroke; Vascular Malformations MUCOLIPIDOSES See: Mucopolysaccharidosis; Mucolipidosis Type IV," Tay-Sachs Disease MUCOLIPIDOSIS TYPE IV See also: Mucopolysaccharidosis; Tay-Sachs Disease; Visual Impairments ML4 Foundation 719 East 17th St.