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

Lysosomal hydrolases in blood-derived macrophages of patients with I-cell diseaseYATZIV, S; BARFI, G; NEWBURG, D. S et al.The Journal of laboratory and clinical medicine. 1986, Vol 108, Num 4, pp 365-368, issn 0022-2143Article

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

Membrane-bound N-acetyl-β-glucosaminidase: different binding specificity in control and I-cell disease liversKATO, G; SUZUKI, Y.FEBS letters. 1985, Vol 193, Num 2, pp 222-226, issn 0014-5793Article

Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlationBABCOCK, D. S; BOVE, K. E; HUG, G et al.Pediatric radiology. 1986, Vol 16, Num 1, pp 32-39, issn 0301-0449Article

Is there an ethnic arab predisposition to mucolipidosis type II?BENSON, P. F; FAHMY, N. A; FENSOM, A. H et al.Saudi medical journal. 1988, Vol 9, Num 4, pp 381-388, issn 0379-5284Article

I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variantsMUELLER, O. T; LITTLE, L. E; MILLER, A. L et al.Clinica chimica acta. 1985, Vol 150, Num 3, pp 175-183, issn 0009-8981Article

The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical studyVAN DONGEN, J. M; WILLEMSEN, R; GINNS, E. I et al.European journal of cell biology. 1985, Vol 39, Num 1, pp 179-189, issn 0171-9335Article

Mucolipidosis II presenting as severe neonatal hyperparathyroidismUNGER, Sheila; PAUL, David A; NINO, Michelle C et al.European journal of pediatrics. 2005, Vol 164, Num 4, pp 236-243, issn 0340-6199, 8 p.Article

Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up reportGREWAL, S; SHAPIRO, E; BRAUNLIN, E et al.Bone marrow transplantation (Basingstoke). 2003, Vol 32, Num 9, pp 957-960, issn 0268-3369, 4 p.Article

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder populationPLANTE, M; CLAVEAU, S; LEPAGE, P et al.Clinical genetics. 2008, Vol 73, Num 3, pp 236-244, issn 0009-9163, 9 p.Article

Neonatal mucolipidosis 2: the spontaneous evolution of early bone lesions and the effect of vitamin D treatment: report of two casesPAZZAGLIA, U. E; BELUFFI, G; DANESINO, C et al.Pediatric radiology. 1989, Vol 20, Num 1-2, pp 80-84, issn 0301-0449Article

Calcification of intervertebral disks in I-cell diseaseMOGLE, P; AMITAI, Y; ROTENBERG, M et al.European journal of pediatrics. 1986, Vol 145, Num 3, pp 226-227, issn 0340-6199Article

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GIcNAc-phosphotransferase α/β-subunits precursor geneKUDO, Mariko; BREM, Michael S; CANFIELD, William M et al.American journal of human genetics. 2006, Vol 78, Num 3, pp 451-463, issn 0002-9297, 13 p.Article

Foamy podocytesRENWICK, Neil; NASR, Samih H; CHUNG, Wendy K et al.American journal of kidney diseases. 2003, Vol 41, Num 4, pp 891-896, issn 0272-6386, 6 p.Article

Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)BECK, M; BARONE, R; HOFFMANN, R et al.Clinical genetics. 1995, Vol 47, Num 4, pp 191-199, issn 0009-9163Article

Study of the bone pathology in early mucolipidosis II (I-cell disease)PAZZAGLIA, U. E; BELUFFI, G; BIANCHI, E et al.European journal of pediatrics. 1989, Vol 148, Num 6, pp 553-557, issn 0340-6199Article

Multiple transfer of lysosomal enzymes from normal lymphocytes to I-Cell fibroblastsOLSEN, I; HAND, C; MUIR, H et al.Cell biology international reports. 1987, Vol 11, Num 2, pp 131-140, issn 0309-1651Article

Nonlysosomal processing of cell-surface heparan sulfate proteoglycans: studies of I-cells and NH₄Cl-treated normal cellsBRAUKER, J. H; WANG, J. L.The Journal of biological chemistry (Print). 1987, Vol 262, Num 27, pp 13093-13101, issn 0021-9258Article

Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I-cell disease)CHEN, M; KE, Y.-Y; CHANG, S.-P et al.Ultrasound in obstetrics & gynecology. 2010, Vol 36, Num 2, pp 255-256, issn 0960-7692, 2 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

First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assayBEN-YOSEPH, Y; MITCHELL, D. A; NADLER, H. L et al.Clinical genetics. 1988, Vol 33, Num 1, pp 38-43, issn 0009-9163Article

Mucolipidose Typ II (I-Cell disease) mit umgewöhnlich ausgeprögter Herzbeteiligung = Mucolipidose type 2 (I-cell disease) avec complication cardiaque inhabituelle = Mucolipidosis type II (I-cell disease) with severe cardiac involvementSCHULZ, R; VOGT, J; VOSS, W et al.Monatsschrift für Kinderheilkunde. 1987, Vol 135, Num 10, pp 708-711, issn 0026-9298Article

Ultrastructural studies of the skin and cultured fibroblasts in I-cell diseaseENDO, H; MIYAZAKI, T; ASANO, S et al.Journal of cutaneous pathology. 1987, Vol 14, Num 5, pp 309-317, issn 0303-6987Article

Asymmetric venticular septal hypertrophy in I. cell diseaseSAKURA, N; HAYASHIDA, M; WAKI, C et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 4, pp 401-402, issn 0141-8955Article