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
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
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DOI: 10.1016/j.ejmg.2017.04.005
Abstract: BACKGROUND Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. Nowadays with the use of new tools such as next generation sequencing, more ML-IV affected patients… read more here.
Keywords: phenotype; phenotype patients; mucolipidosis; patients affected ... 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
A case of mucolipidosis II / manifested as chondrodysplasia punctata in a second trimester fetus
Sign Up to like & getrecommendations! Published in 2019 at "prenatal diagnosis"
DOI: 10.21516/2413-1458-2019-18-1-73-81
Abstract: The case of mucolipidosis II / in a second trimester fetus is presented. At the ultrasound examination at 20 weeks of gestation intrauterine growth restriction, abnormal profile with flattened nose, polyhydramnios and premature maturation of… read more here.
Keywords: case mucolipidosis; second trimester; trimester fetus; mucolipidosis ... See more keywords