FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912779880> ?p ?o ?g. }

• W2912779880 abstract "Pseudohypoparathyroidism type 1A (PHP1A) is characterized by resistance to multiple hormones, the Albright Hereditary Osteodystrophy phenotype, obesity, and developmental delay. Developmental delay usually appears prior to hypocalcemia due to parathyroid hormone resistance and could be a clinically important feature for early diagnosis of PHP1A. To date, however, the details have not been documented. With regard to developmental delays, we conducted a multicenter retrospective study of 22 PHP1A patients from 18 families who were diagnosed clinically or genetically from 2005 to 2015. For quantitative analysis of their development, we calculated the ratios of the milestone ages of the patients to those in normal reference data. The ratio of the ages with respect to speech development, i.e., speaking a first meaningful word (median: 1.67), was significantly higher than that for gross motor development, walking unassisted (median: 1.34). The ratio of age at stringing a two-word sentence (median: 1.32) was significantly lower than that of saying a first word (median: 1.84). Ten out of 11 (91%) patients exhibited two or three of the following clinical phenotypes: developmental delay, obesity, and hyperthyrotropinemia. These results suggest two possible clinical features of developmental delays in PHP1A patients: developmental delay is more obvious in speech acquisition than in gross motor skills, and speech delays could be attenuated during later childhood. Further, the presence of multiple of three clinical symptoms could be an important indicator to differentiate the diagnosis of PHP1A during early childhood." @default.
• W2912779880 created "2019-02-21" @default.
• W2912779880 creator A5011821552 @default.
• W2912779880 creator A5012418456 @default.
• W2912779880 creator A5013851070 @default.
• W2912779880 creator A5022087744 @default.
• W2912779880 creator A5022585526 @default.
• W2912779880 creator A5022922582 @default.
• W2912779880 creator A5023089593 @default.
• W2912779880 creator A5034493951 @default.
• W2912779880 creator A5043714375 @default.
• W2912779880 creator A5047966269 @default.
• W2912779880 creator A5049921617 @default.
• W2912779880 creator A5055431860 @default.
• W2912779880 creator A5082836616 @default.
• W2912779880 creator A5083934746 @default.
• W2912779880 creator A5087590069 @default.
• W2912779880 date "2019-01-01" @default.
• W2912779880 modified "2023-10-03" @default.
• W2912779880 title "Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood" @default.
• W2912779880 cites W1515800074 @default.
• W2912779880 cites W1985740868 @default.
• W2912779880 cites W2029478336 @default.
• W2912779880 cites W2033945070 @default.
• W2912779880 cites W2071975392 @default.
• W2912779880 cites W2098344763 @default.
• W2912779880 cites W2104924678 @default.
• W2912779880 cites W2148871988 @default.
• W2912779880 cites W2479347969 @default.
• W2912779880 cites W2551968378 @default.
• W2912779880 cites W2562197922 @default.
• W2912779880 cites W2624458423 @default.
• W2912779880 cites W2770317167 @default.
• W2912779880 cites W2779512190 @default.
• W2912779880 doi "https://doi.org/10.1507/endocrj.ej18-0326" @default.
• W2912779880 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30674755" @default.
• W2912779880 hasPublicationYear "2019" @default.
• W2912779880 type Work @default.
• W2912779880 sameAs 2912779880 @default.
• W2912779880 citedByCount "2" @default.
• W2912779880 countsByYear W29127798802020 @default.
• W2912779880 countsByYear W29127798802021 @default.
• W2912779880 crossrefType "journal-article" @default.
• W2912779880 hasAuthorship W2912779880A5011821552 @default.
• W2912779880 hasAuthorship W2912779880A5012418456 @default.
• W2912779880 hasAuthorship W2912779880A5013851070 @default.
• W2912779880 hasAuthorship W2912779880A5022087744 @default.
• W2912779880 hasAuthorship W2912779880A5022585526 @default.
• W2912779880 hasAuthorship W2912779880A5022922582 @default.
• W2912779880 hasAuthorship W2912779880A5023089593 @default.
• W2912779880 hasAuthorship W2912779880A5034493951 @default.
• W2912779880 hasAuthorship W2912779880A5043714375 @default.
• W2912779880 hasAuthorship W2912779880A5047966269 @default.
• W2912779880 hasAuthorship W2912779880A5049921617 @default.
• W2912779880 hasAuthorship W2912779880A5055431860 @default.
• W2912779880 hasAuthorship W2912779880A5082836616 @default.
• W2912779880 hasAuthorship W2912779880A5083934746 @default.
• W2912779880 hasAuthorship W2912779880A5087590069 @default.
• W2912779880 hasBestOaLocation W29127798801 @default.
• W2912779880 hasConcept C114735433 @default.
• W2912779880 hasConcept C118552586 @default.
• W2912779880 hasConcept C126322002 @default.
• W2912779880 hasConcept C138496976 @default.
• W2912779880 hasConcept C15744967 @default.
• W2912779880 hasConcept C169976356 @default.
• W2912779880 hasConcept C187212893 @default.
• W2912779880 hasConcept C2778073708 @default.
• W2912779880 hasConcept C2779688443 @default.
• W2912779880 hasConcept C2780356894 @default.
• W2912779880 hasConcept C2781090501 @default.
• W2912779880 hasConcept C2781208988 @default.
• W2912779880 hasConcept C519063684 @default.
• W2912779880 hasConcept C71924100 @default.
• W2912779880 hasConceptScore W2912779880C114735433 @default.
• W2912779880 hasConceptScore W2912779880C118552586 @default.
• W2912779880 hasConceptScore W2912779880C126322002 @default.
• W2912779880 hasConceptScore W2912779880C138496976 @default.
• W2912779880 hasConceptScore W2912779880C15744967 @default.
• W2912779880 hasConceptScore W2912779880C169976356 @default.
• W2912779880 hasConceptScore W2912779880C187212893 @default.
• W2912779880 hasConceptScore W2912779880C2778073708 @default.
• W2912779880 hasConceptScore W2912779880C2779688443 @default.
• W2912779880 hasConceptScore W2912779880C2780356894 @default.
• W2912779880 hasConceptScore W2912779880C2781090501 @default.
• W2912779880 hasConceptScore W2912779880C2781208988 @default.
• W2912779880 hasConceptScore W2912779880C519063684 @default.
• W2912779880 hasConceptScore W2912779880C71924100 @default.
• W2912779880 hasLocation W29127798801 @default.
• W2912779880 hasLocation W29127798802 @default.
• W2912779880 hasOpenAccess W2912779880 @default.
• W2912779880 hasPrimaryLocation W29127798801 @default.
• W2912779880 hasRelatedWork W2056360861 @default.
• W2912779880 hasRelatedWork W2131342285 @default.
• W2912779880 hasRelatedWork W2143162687 @default.
• W2912779880 hasRelatedWork W2417406184 @default.
• W2912779880 hasRelatedWork W2559807138 @default.
• W2912779880 hasRelatedWork W2606415030 @default.
• W2912779880 hasRelatedWork W2912779880 @default.
• W2912779880 hasRelatedWork W2993129178 @default.
• W2912779880 hasRelatedWork W2994861807 @default.

• next