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Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 842 - 864
Journal Article
International Journal of Gynecological Pathology, ISSN 0277-1691, 07/2019, Volume 38, Issue 4, pp. 346 - 352
Mucolipidosis type II, also known as I-cell disease, is an autosomal recessive inborn error of metabolism, resulting from loss-of-function mutations in GNPTAB.... 
Inborn error of metabolism | Vacuolization | Placenta | Mucolipidosis type II | CELLS | ELECTRON-MICROSCOPY | PATHOLOGY | FEATURES | OBSTETRICS & GYNECOLOGY | FOAMY CHANGES | GLYCOGEN-STORAGE-DISEASE | ALPHA/BETA | ULTRASTRUCTURE | MUTATIONS | PRENATAL-DIAGNOSIS | Medicine, Experimental | Medical research | Genetic aspects | Research | Gene mutations | Mucolipidoses
Journal Article
TURKISH JOURNAL OF BIOLOGY, ISSN 1300-0152, 2019, Volume 43, Issue 3, pp. 171 - 178
Mucolipidosis type II (ML-II, I-cell disease) is a fatal inherited lysosomal storage disease caused by a deficiency of the enzyme... 
APOPTOSIS | Mucolipidosis type II | lysosomal storage disease | MODEL | LYSOSOMAL STORAGE DISORDERS | bone marrow | GAUCHER-DISEASE | TRANSPLANTATION | ALPHA/BETA | I-cell disease | mesenchymal stem cells | BIOLOGY | INHERITANCE
Journal Article
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2013, Volume 26, Issue 7-8, pp. 767 - 769
Sialidosis is a lysosomal storage disease caused by deficiency of alpha-N-acetyl neuraminidase-1. Sialidosis is classified into two main clinical variants:... 
Sialidosis type 2 | Hyperparathyroidism | Neonate | sialidosis type 2 | MUCOLIPIDOSIS TYPE-II | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | neonate | hyperparathyroidism | CELL DISEASE | Hyperparathyroidism - etiology | Female | Mucolipidoses - etiology | Humans | Infant, Newborn
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 06/2019, Volume 36, Issue 6, pp. 606 - 609
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 02/2012, Volume 25, Issue 1, pp. 191 - 195
Journal Article
VETERINARY PATHOLOGY, ISSN 0300-9858, 03/2009, Volume 46, Issue 2, pp. 313 - 324
Journal Article
by Paik, KH and Song, SM and Ki, CS and Yu, HW and Kim, JS and Min, KH and Chang, SH and Yo, EJ and Lee, IJ and Kwan, EK and Han, SJ and Jin, DK
HUMAN MUTATION, ISSN 1059-7794, 10/2005, Volume 26, Issue 4, pp. 308 - 314
Mucolipidosis types 11 and III are autosomal recessive inherited diseases caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1... 
MUCOLIPIDOSIS-III | LYSOSOMAL-ENZYME N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE | PSEUDO-HURLER POLYDYSTROPHY | mucolipidosis type II | CARDIOMYOPATHY | GENETICS & HEREDITY | GNPTA | CELL DISEASE | MOLECULAR-BASIS | phosphotransferase | MGC4170
Journal Article
Veterinary Pathology, ISSN 0300-9858, 3/2009, Volume 46, Issue 2, pp. 313 - 324
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 09/2018, Volume 7, Issue 3, pp. 134 - 137
Abstract Traditional approaches to prenatal genetic diagnosis for common presentations such as short femurs or intrauterine growth restriction are imperfect,... 
Case Report | mucolipidosis | prenatal diagnosis | lysosomal storage disease | genetic testing | skeletal dysplasia
Journal Article
Journal Article