Tracheal and lower airway changes in a patient with mucolipidosis type II
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24765
Abstract: Mucolipidosis type II (MLII) is a lysosomal storage disease causing systemic deposition of mucopolysaccharides. We describe imaging and bronchoscopy findings not previously reported in the literature in a child with MLII. read more here.
Keywords: tracheal lower; lower airway; mucolipidosis; mucolipidosis type ... See more keywords
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2017.11.052
Abstract: Mucolipidosis type III gamma (MLIII gamma) is a lysosomal storage disease characterized by joint stiffness, mild coarse face and corneal clouding, which becomes recognizable usually in childhood. Biallelic mutations in the GNPTG gene, which encode… read more here.
Keywords: phenotype; iii gamma; genotype phenotype; eleven patients ... See more keywords
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100704
Abstract: Background Mucolipidosis type II (MLII) is an ultra-rare lysosomal storage disorder caused by defective lysosomal enzyme trafficking. Clinical hallmarks are craniofacial dysmorphia, cardiorespiratory dysfunction, hepatosplenomegaly, skeletal deformities and neurocognitive retardation. Death usually occurs in the… read more here.
Keywords: cell transplantation; mucolipidosis type; stem cell; hematopoietic stem ... See more keywords
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-0797-8
Abstract: Mucolipidosis (ML) (OMIM 607840 & 607838) is a rare autosomal recessive inherited disorder that occurs due to the deficiency of golgi enzyme uridine diphosphate (UDP)– N -acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) responsible for tagging mannose-6-phosphate for proper trafficking… read more here.
Keywords: indian patients; mucolipidosis; mucolipidosis type; type ... See more keywords
Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Gynecological Pathology"
DOI: 10.1097/pgp.0000000000000506
Abstract: 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. Affected infants exhibit multiple physical anomalies and developmental delay, and death from disease… read more here.
Keywords: placental disk; twin; mucolipidosis type;
Unique molecular signature in mucolipidosis type IV microglia
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neuroinflammation"
DOI: 10.1186/s12974-019-1672-4
Abstract: BackgroundLysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies. Depending on the affected metabolic pathway, LSD manifest with… read more here.
Keywords: microglia; fabry disease; disease; mucolipidosis type ... See more keywords
The Dictyostelium Model for Mucolipidosis Type IV
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.741967
Abstract: Mucolipidosis type IV, a devastating neurological lysosomal disease linked to mutations in the transient receptor potential channel mucolipin 1, TRPML1, a calcium permeable channel in the membranes of vesicles in endolysosomal system. TRPML1 function is… read more here.
Keywords: dictyostelium; mucolipin; calcium; mucolipidosis type ... See more keywords
The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20211206-03
Abstract: PURPOSE To present a case report of mucolipidosis type IV (ML4) and review the literature for all of the ophthalmic abnormalities associated with this disease. METHODS A systematic review of the literature using PubMed/Medline was… read more here.
Keywords: high association; manifestations individuals; case report; association ophthalmic ... See more keywords