FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4226341330> ?p ?o ?g. }

• W4226341330 abstract "This study aimed to improve the cognition of mucolipidosis (ML) II and III alpha/beta by analyzing the clinical manifestations of two patients.The clinical, biochemical, and molecular data of two clinical cases associated with ML II and III alpha/beta were analyzed and compared with other case reports of ML II and III alpha/beta.The first patient was a 14-month-old girl who was hospitalized because of abnormal postnatal coarse facial features. The child had no abnormal birth history, but developed multiple abnormalities such as psychomotor retardation, abnormal facial features, bilateral limb muscle hypotonia, and genital abnormalities. The X-ray of the spine revealed multiple bone malformations. Brain magnetic resonance imaging (MRI) showed delayed myelination. Genetic testing showed the presence of two compound heterozygous pathogenic variants (c.1364C>T and c.1284+1G>T) in the GNPTAB gene. The second patient was an 18-month-old boy who was hospitalized for recurrent respiratory tract infections. The patient was a high-risk preterm infant with postnatal psychomotor retardation, language development retardation, intellectual disability, and coarse facial features. X-ray showed multiple bone malformations. Craniocerebral ultrasound showed bilateral ventricle widening. Genetic testing showed the presence of two compound heterozygous pathogenic variants (c.1284+1G>T and c.483delT) in the same gene.ML II and III alpha/beta are rare autosomal-recessive lysosomal storage diseases that are attributed to GNPTAB variants that cause N-acetylglucosamine-1-phosphotransferase deficiency, finally leading to multiple clinical signs and symptoms. A proper ML II and/or III alpha/beta diagnosis requires a combined analysis of a patient's clinical manifestations, imaging examination, enzymatic analysis, and genetic testing results. Ultimately, genetic counseling is essential for this disease." @default.
• W4226341330 created "2022-05-05" @default.
• W4226341330 creator A5025610773 @default.
• W4226341330 creator A5050357666 @default.
• W4226341330 creator A5066959727 @default.
• W4226341330 creator A5067561784 @default.
• W4226341330 date "2022-04-08" @default.
• W4226341330 modified "2023-10-03" @default.
• W4226341330 title "Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)" @default.
• W4226341330 cites W1998905576 @default.
• W4226341330 cites W2023454446 @default.
• W4226341330 cites W2044275735 @default.
• W4226341330 cites W2062718003 @default.
• W4226341330 cites W2069248076 @default.
• W4226341330 cites W2083642492 @default.
• W4226341330 cites W2086738913 @default.
• W4226341330 cites W2115216634 @default.
• W4226341330 cites W2136616700 @default.
• W4226341330 cites W2154106053 @default.
• W4226341330 cites W2163698133 @default.
• W4226341330 cites W2168652752 @default.
• W4226341330 cites W2283660539 @default.
• W4226341330 cites W2342384597 @default.
• W4226341330 cites W2514606257 @default.
• W4226341330 cites W2574089120 @default.
• W4226341330 cites W2773158619 @default.
• W4226341330 cites W2801920154 @default.
• W4226341330 cites W2807434747 @default.
• W4226341330 cites W2912723354 @default.
• W4226341330 cites W3005337252 @default.
• W4226341330 cites W3010321823 @default.
• W4226341330 cites W3013504464 @default.
• W4226341330 cites W3086559968 @default.
• W4226341330 cites W3121109588 @default.
• W4226341330 cites W3134713315 @default.
• W4226341330 cites W4252634561 @default.
• W4226341330 cites W4254644792 @default.
• W4226341330 cites W2416765665 @default.
• W4226341330 doi "https://doi.org/10.3389/fped.2022.852701" @default.
• W4226341330 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35463894" @default.
• W4226341330 hasPublicationYear "2022" @default.
• W4226341330 type Work @default.
• W4226341330 citedByCount "1" @default.
• W4226341330 countsByYear W42263413302023 @default.
• W4226341330 crossrefType "journal-article" @default.
• W4226341330 hasAuthorship W4226341330A5025610773 @default.
• W4226341330 hasAuthorship W4226341330A5050357666 @default.
• W4226341330 hasAuthorship W4226341330A5066959727 @default.
• W4226341330 hasAuthorship W4226341330A5067561784 @default.
• W4226341330 hasBestOaLocation W42263413301 @default.
• W4226341330 hasConcept C104317684 @default.
• W4226341330 hasConcept C118552586 @default.
• W4226341330 hasConcept C12125453 @default.
• W4226341330 hasConcept C126322002 @default.
• W4226341330 hasConcept C142724271 @default.
• W4226341330 hasConcept C164953862 @default.
• W4226341330 hasConcept C169900460 @default.
• W4226341330 hasConcept C180754005 @default.
• W4226341330 hasConcept C181199279 @default.
• W4226341330 hasConcept C187212893 @default.
• W4226341330 hasConcept C204787440 @default.
• W4226341330 hasConcept C2776202747 @default.
• W4226341330 hasConcept C2779546488 @default.
• W4226341330 hasConcept C2780905385 @default.
• W4226341330 hasConcept C54355233 @default.
• W4226341330 hasConcept C55493867 @default.
• W4226341330 hasConcept C71924100 @default.
• W4226341330 hasConcept C86803240 @default.
• W4226341330 hasConceptScore W4226341330C104317684 @default.
• W4226341330 hasConceptScore W4226341330C118552586 @default.
• W4226341330 hasConceptScore W4226341330C12125453 @default.
• W4226341330 hasConceptScore W4226341330C126322002 @default.
• W4226341330 hasConceptScore W4226341330C142724271 @default.
• W4226341330 hasConceptScore W4226341330C164953862 @default.
• W4226341330 hasConceptScore W4226341330C169900460 @default.
• W4226341330 hasConceptScore W4226341330C180754005 @default.
• W4226341330 hasConceptScore W4226341330C181199279 @default.
• W4226341330 hasConceptScore W4226341330C187212893 @default.
• W4226341330 hasConceptScore W4226341330C204787440 @default.
• W4226341330 hasConceptScore W4226341330C2776202747 @default.
• W4226341330 hasConceptScore W4226341330C2779546488 @default.
• W4226341330 hasConceptScore W4226341330C2780905385 @default.
• W4226341330 hasConceptScore W4226341330C54355233 @default.
• W4226341330 hasConceptScore W4226341330C55493867 @default.
• W4226341330 hasConceptScore W4226341330C71924100 @default.
• W4226341330 hasConceptScore W4226341330C86803240 @default.
• W4226341330 hasFunder F4320321001 @default.
• W4226341330 hasFunder F4320338110 @default.
• W4226341330 hasLocation W42263413301 @default.
• W4226341330 hasLocation W42263413302 @default.
• W4226341330 hasLocation W42263413303 @default.
• W4226341330 hasOpenAccess W4226341330 @default.
• W4226341330 hasPrimaryLocation W42263413301 @default.
• W4226341330 hasRelatedWork W114550710 @default.
• W4226341330 hasRelatedWork W2053327833 @default.
• W4226341330 hasRelatedWork W2086339280 @default.
• W4226341330 hasRelatedWork W2098691489 @default.
• W4226341330 hasRelatedWork W2157450473 @default.
• W4226341330 hasRelatedWork W2307683289 @default.
• W4226341330 hasRelatedWork W2624785846 @default.

• next