Mucolipidoses II and III variants with normal N-acetylglucosamine I-phosphotransferase activity toward α-methylmannoside are due to nonallelic mutationsBEN-YOSEPH, Y; MITCHELL, D. A; YAGER, R. M et al.American journal of human genetics. 1992, Vol 50, Num 1, pp 137-144, issn 0002-9297Article

MUCOLIPIDOSIS III IS GENETICALLY HETEROGENOUSHONEY NK; MUELLER OT; LITTLE LE et al.1982; PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. BIOLOGICAL SCIENCES; ISSN 0273-1134; USA; DA. 1982; VOL. 23; NO 79; PP. 7420-7424; BIBL. 28 REF.Article

Molecular Order in Mucolipidosis II and III NomenclatureCATHEY, Sara S; KUDO, Mariko; MCKUSICK, Victor A et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 4, pp 512-513, issn 1552-4825, 2 p.Article

Rubrique iconographique dirigée par C. Fauré et J.-Ph. Montagne = Case of the mouthCOLOME, M. F; OLEWNICZAK, G; GALLET, M et al.Archives françaises de pédiatrie. 1985, Vol 42, Num 7, pp 539-540, issn 0003-9764Article

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversityCOUTINHO, M. F; ENCARNACAO, M; LAPRISE, C et al.Clinical genetics. 2011, Vol 80, Num 3, pp 273-280, issn 0009-9163, 8 p.Article

Unusual Pulmonary Findings in Mucolipidosis IIISHAK, Marleine; ZAMBRANO, Eduardo V; BAZZY-ASAAD, Alia et al.Pediatric pulmonology. 2012, Vol 47, Num 7, pp 719-721, issn 8755-6863, 3 p.Article

Abnormal expressions of the subunits of the UDP-N-acetylglucosamine : Lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cellsHO, Cecilia Y. S; TANG, Nelson L. S; YEUNG, Ava K. Y et al.Journal of molecular medicine (Berlin. Print). 2007, Vol 85, Num 4, pp 351-360, issn 0946-2716, 10 p.Article

Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosisFALIK-ZACCAI, T. C; ZEIGLER, M; BARGAL, R et al.Prenatal diagnosis. 2003, Vol 23, Num 3, pp 211-214, issn 0197-3851, 4 p.Article

Plasma hyaluronidase activity in mucolipidoses II and III : Marked differences from other lysosomal enzymesNATOWICZ, M. R; WANG, Y.American journal of medical genetics. 1996, Vol 65, Num 3, pp 209-212, issn 0148-7299Article

Adult α-mannosidosis: Clinical progression in the absence of demyelinationGUTSCHALK, A; HARTING, I; CANTZ, M et al.Neurology. 2004, Vol 63, Num 9, pp 1744-1746, issn 0028-3878, 3 p.Article

Mucolipidosis type IV : clinical manifestations and natural historyCHITAYAT, D; MEUNIER, C. M; HODGKINSON, K. A et al.American journal of medical genetics. 1991, Vol 41, Num 3, pp 313-318, issn 0148-7299Article

An individual with high plasma lysosomal enzymesALEXANDER, D. R; DEEB, M; JACKSON, M et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 3, issn 0141-8955, 283Article

The natural course and complications of alpha-mannosidosis —a retrospective and descriptive studyMALM, Dag; STENSLAND, Hilde Monica Frostad Riise; EDVARDSEN, Øyvind et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 1, pp 79-82, issn 0141-8955, 4 p.Article

Retinal Dystrophy in 2 Brothers With α-MannosidosisCOURTNEY, Robert Jackson; PENNESI, Mark E.Archives of ophthalmology (1960). 2011, Vol 129, Num 6, pp 799-802, issn 0003-9950, 4 p.Article

A Key Enzyme in the Biogenesis of Lysosomes Is a Protease That Regulates Cholesterol MetabolismMARSCHNER, Katrin; KOLLMANN, Katrin; SCHWEIZER, Michaela et al.Science (Washington, D.C.). 2011, Vol 333, Num 6038, pp 87-90, issn 0036-8075, 4 p.Article

Bone changes of mucolipidosis II at different ages : postmortem study of three casesPAZZAGLIA, U. E; BELUFFI, G; CASTELLO, A et al.Clinical orthopaedics and related research. 1992, Num 276, pp 283-290, issn 0009-921XArticle

Phospholipids accumulation in mucolipidosis IV cultured fibroblastsBARGAL, R; BACH, G.Journal of inherited metabolic disease. 1988, Vol 11, Num 2, pp 144-150, issn 0141-8955Article

Inborn errors of complex carbohydrate metabolismSPRANGER, J.American journal of medical genetics. 1987, Vol 28, Num 2, pp 489-499, issn 0148-7299Article

Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblastsVLADUTIU, G. D; MIDDLETON, E. JR.Life sciences (1973). 1986, Vol 39, Num 8, pp 717-726, issn 0024-3205Article

GENETIC HETEROGENEITY IN HUMAN NEURAMINIDASE DEFICIENCYHOOGEVEEN AT; VERHEIJEN FW; D'AZZO A et al.1980; NATURE; GBR; DA. 1980; VOL. 285; NO 5765; PP. 500-502; BIBL. 21 REF.Article

MALADIES HEREDITAIRES DU METABOLISME DES MUCOPOLYSACCHARIDES, GLYCOPROTEINES ET SPHINGOLIPIDES. I: ANOMALIES BIOCHIMIQUESSALVAYRE R; THOUVENOT JP; DOUJTE BLAZY L et al.1979; REV. MED. TOULOUSE; FRA; DA. 1979; VOL. 15; NO 8; PP. 471-482; ABS. ENG; BIBL. 58 REF.Article

LES OLIGOSACCARIDOSES. ETUDE DE 15 OBSERVATIONSFARRIAUX JP; STECKER G; DHONDT JL et al.1978; REV. MEDITERR. SCI. MED.; FRA; DA. 1978; VOL. 3; NO 8; PP. 487-491; ABS. ENGArticle

SIALOGLUCIDURIA IN LYSOSOMAL DISEASES: QUANTITATIVE AND QUALITATIVE ANALYSIS OF URINARY LOW MOLECULAR SIALOGLUCIDES FROM PATIENTS WITH MUCOPOLYSACCHARIDOSIS AND WITH MUCOLIPIDOSISKOSEKI M; JIN YEH WU; TSURUMI K et al.1978; TOHOKU J. EXPER. MED.; JPN; DA. 1978; VOL. 124; NO 4; PP. 351-360; BIBL. 18 REF.Article

Loss of N-Acetylglucosamine-1-Phosphotransferase Gamma Subunit Due To Intronic Mutation in GNPTG Causes Mucolipidosis Type III Gamma: Implications or Molecular and Cellular DiagnosticsPOHL, Sandra; ENCARNACAO, Marisa; CASTRICHINI, Monica et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 1, pp 124-132, issn 1552-4825, 9 p.Article

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III ― identification of eight novel mutationsENCARNACAO, M; LACERDA, L; MUSTONEN, A et al.Clinical genetics. 2009, Vol 76, Num 1, pp 76-84, issn 0009-9163, 9 p.Article