FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2597171179> ?p ?o ?g. }

• W2597171179 endingPage "122" @default.
• W2597171179 startingPage "122" @default.
• W2597171179 abstract "Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi. Blood gas revealed hypoxemia which improved with oxygen administration. Plain X-rays and high-resolution computed tomography of the chest showed perihilar alveolar infiltrates and patchy consolidation. The clinicoradiological features did not support a diagnosis of asthma but favored interstitial lung disease (ILD). Bronchoalveolar lavage was performed as a first-tier investigation. It showed periodic acid-Schiff-negative foamy macrophages. The clues of consanguinity, visceromegaly, ILD, and foamy macrophages in the bronchoalveolar fluid prompted consideration of lysosomal storage disorders as the likely etiology. Gaucher disease and Niemann-Pick disease A/B were ruled out by enzyme estimation. Niemann-Pick disease type C was suspected and confirmed by detecting a homozygous mutation in the NPC2 gene. This case serves to caution physicians against labeling breathlessness in every toddler as asthma. It emphasizes the importance of searching for tell-tale signs such as clubbing and extrapulmonary clues which point to a systemic disease such as lysosomal storage disorders as a primary etiology of chronic respiratory symptoms." @default.
• W2597171179 created "2017-03-23" @default.
• W2597171179 creator A5032603609 @default.
• W2597171179 creator A5040495789 @default.
• W2597171179 creator A5049821948 @default.
• W2597171179 creator A5074370155 @default.
• W2597171179 date "2017-01-01" @default.
• W2597171179 modified "2023-09-28" @default.
• W2597171179 title "Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an “asthma” label" @default.
• W2597171179 cites W1034285351 @default.
• W2597171179 cites W1693253953 @default.
• W2597171179 cites W2011466270 @default.
• W2597171179 cites W2035915639 @default.
• W2597171179 cites W2041607796 @default.
• W2597171179 cites W2068262899 @default.
• W2597171179 cites W2086966586 @default.
• W2597171179 cites W2089363206 @default.
• W2597171179 cites W2090796612 @default.
• W2597171179 cites W2105991286 @default.
• W2597171179 cites W2118355063 @default.
• W2597171179 cites W2132903876 @default.
• W2597171179 cites W2166209353 @default.
• W2597171179 cites W2172537039 @default.
• W2597171179 cites W2495376331 @default.
• W2597171179 cites W329757202 @default.
• W2597171179 cites W4230575416 @default.
• W2597171179 cites W4252051130 @default.
• W2597171179 doi "https://doi.org/10.4103/0022-3859.201416" @default.
• W2597171179 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5414422" @default.
• W2597171179 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28272068" @default.
• W2597171179 hasPublicationYear "2017" @default.
• W2597171179 type Work @default.
• W2597171179 sameAs 2597171179 @default.
• W2597171179 citedByCount "10" @default.
• W2597171179 countsByYear W25971711792017 @default.
• W2597171179 countsByYear W25971711792018 @default.
• W2597171179 countsByYear W25971711792019 @default.
• W2597171179 countsByYear W25971711792020 @default.
• W2597171179 countsByYear W25971711792021 @default.
• W2597171179 countsByYear W25971711792022 @default.
• W2597171179 countsByYear W25971711792023 @default.
• W2597171179 crossrefType "journal-article" @default.
• W2597171179 hasAuthorship W2597171179A5032603609 @default.
• W2597171179 hasAuthorship W2597171179A5040495789 @default.
• W2597171179 hasAuthorship W2597171179A5049821948 @default.
• W2597171179 hasAuthorship W2597171179A5074370155 @default.
• W2597171179 hasBestOaLocation W25971711791 @default.
• W2597171179 hasConcept C126322002 @default.
• W2597171179 hasConcept C137627325 @default.
• W2597171179 hasConcept C141071460 @default.
• W2597171179 hasConcept C141983124 @default.
• W2597171179 hasConcept C142724271 @default.
• W2597171179 hasConcept C187212893 @default.
• W2597171179 hasConcept C2776042228 @default.
• W2597171179 hasConcept C2776169613 @default.
• W2597171179 hasConcept C2776888751 @default.
• W2597171179 hasConcept C2777543607 @default.
• W2597171179 hasConcept C2777714996 @default.
• W2597171179 hasConcept C2777961210 @default.
• W2597171179 hasConcept C2779134260 @default.
• W2597171179 hasConcept C2779440204 @default.
• W2597171179 hasConcept C2779969927 @default.
• W2597171179 hasConcept C71924100 @default.
• W2597171179 hasConceptScore W2597171179C126322002 @default.
• W2597171179 hasConceptScore W2597171179C137627325 @default.
• W2597171179 hasConceptScore W2597171179C141071460 @default.
• W2597171179 hasConceptScore W2597171179C141983124 @default.
• W2597171179 hasConceptScore W2597171179C142724271 @default.
• W2597171179 hasConceptScore W2597171179C187212893 @default.
• W2597171179 hasConceptScore W2597171179C2776042228 @default.
• W2597171179 hasConceptScore W2597171179C2776169613 @default.
• W2597171179 hasConceptScore W2597171179C2776888751 @default.
• W2597171179 hasConceptScore W2597171179C2777543607 @default.
• W2597171179 hasConceptScore W2597171179C2777714996 @default.
• W2597171179 hasConceptScore W2597171179C2777961210 @default.
• W2597171179 hasConceptScore W2597171179C2779134260 @default.
• W2597171179 hasConceptScore W2597171179C2779440204 @default.
• W2597171179 hasConceptScore W2597171179C2779969927 @default.
• W2597171179 hasConceptScore W2597171179C71924100 @default.
• W2597171179 hasIssue "2" @default.
• W2597171179 hasLocation W25971711791 @default.
• W2597171179 hasLocation W25971711792 @default.
• W2597171179 hasLocation W25971711793 @default.
• W2597171179 hasLocation W25971711794 @default.
• W2597171179 hasLocation W25971711795 @default.
• W2597171179 hasOpenAccess W2597171179 @default.
• W2597171179 hasPrimaryLocation W25971711791 @default.
• W2597171179 hasRelatedWork W2068499319 @default.
• W2597171179 hasRelatedWork W2090958357 @default.
• W2597171179 hasRelatedWork W2142675085 @default.
• W2597171179 hasRelatedWork W2190301876 @default.
• W2597171179 hasRelatedWork W2246679575 @default.
• W2597171179 hasRelatedWork W2394614404 @default.
• W2597171179 hasRelatedWork W2394860381 @default.
• W2597171179 hasRelatedWork W2419618477 @default.
• W2597171179 hasRelatedWork W4241614495 @default.
• W2597171179 hasRelatedWork W4298048402 @default.
• W2597171179 hasVolume "63" @default.

• next