FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2059598510> ?p ?o ?g. }

• W2059598510 endingPage "2526" @default.
• W2059598510 startingPage "2515" @default.
• W2059598510 abstract "Abstract Osteopetrosis (OPT) refers to the consequences of generalized failure of skeletal resorption during growth. Most cases are explained by loss‐of‐function mutation within the genes that encode either chloride channel 7 (CLCN7) or a vacuolar proton pump subunit (TCIRG1), each compromising acid secretion by osteoclasts. Patients suffer fractures and sometimes cranial nerve entrapment and insufficient medullary space for hematopoiesis. In 1996, we reported that a high serum level of the brain isoenzyme of creatine kinase (BB‐CK), the CK of osteoclasts, characterizes OPT dueamong the sclerosing bone disorders ( J Clin Endocrinol Metab. 1996;11:1438). Now, we show that elevation in serum of multiple lactate dehydrogenase (LDH) isoenzymes with aspartate transaminase (AST) distinguishes autosomal dominant OPT due to loss‐of‐function mutation in CLCN7 [Albers‐Schönberg disease (A‐SD)] among these conditions. Serum total LDH and AST levels as high as 3× and 2×, respectively, the upper limits of normal for age‐appropriate controls, were persistent and essentially concordant in A‐SD. Serum LDH was elevated in 7 of 9 children and in the 2 adults studied with A‐SD. LDH isoenzyme quantitation showed excesses of LDH‐2, ‐3, and ‐4. Neither total LDH nor AST increases were found in other forms of OPT, including bisphosphonate‐induced OPT, or in 41 children and 6 adults representing 20 additional sclerosing bone disorders. Serum TRACP‐5b and BB‐CK also were markedly elevated in A‐SD. Hence, high serum levels of several enzymes characterize A‐SD. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency. © 2010 American Society for Bone and Mineral Research." @default.
• W2059598510 created "2016-06-24" @default.
• W2059598510 creator A5008846084 @default.
• W2059598510 creator A5009272710 @default.
• W2059598510 creator A5018740865 @default.
• W2059598510 creator A5036775753 @default.
• W2059598510 creator A5048457917 @default.
• W2059598510 creator A5053447705 @default.
• W2059598510 date "2010-05-17" @default.
• W2059598510 modified "2023-10-10" @default.
• W2059598510 title "Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders" @default.
• W2059598510 cites W1969283110 @default.
• W2059598510 cites W1969318663 @default.
• W2059598510 cites W1983566684 @default.
• W2059598510 cites W1990384579 @default.
• W2059598510 cites W1990893772 @default.
• W2059598510 cites W1992848235 @default.
• W2059598510 cites W1999733940 @default.
• W2059598510 cites W1999804203 @default.
• W2059598510 cites W1999985403 @default.
• W2059598510 cites W2002005732 @default.
• W2059598510 cites W2012991152 @default.
• W2059598510 cites W2022094899 @default.
• W2059598510 cites W2031874549 @default.
• W2059598510 cites W2032499946 @default.
• W2059598510 cites W2038561015 @default.
• W2059598510 cites W2040034328 @default.
• W2059598510 cites W2041455826 @default.
• W2059598510 cites W2054042790 @default.
• W2059598510 cites W2057344518 @default.
• W2059598510 cites W2059455292 @default.
• W2059598510 cites W2076827521 @default.
• W2059598510 cites W2079009649 @default.
• W2059598510 cites W2080254801 @default.
• W2059598510 cites W2083202533 @default.
• W2059598510 cites W2085899506 @default.
• W2059598510 cites W2086961812 @default.
• W2059598510 cites W2087036066 @default.
• W2059598510 cites W2087293629 @default.
• W2059598510 cites W2087869826 @default.
• W2059598510 cites W2089162450 @default.
• W2059598510 cites W2090977690 @default.
• W2059598510 cites W2100733676 @default.
• W2059598510 cites W2102661252 @default.
• W2059598510 cites W2108330312 @default.
• W2059598510 cites W2115785458 @default.
• W2059598510 cites W2145772509 @default.
• W2059598510 cites W2148548585 @default.
• W2059598510 cites W2148797695 @default.
• W2059598510 cites W2152271179 @default.
• W2059598510 cites W2395892394 @default.
• W2059598510 cites W270076708 @default.
• W2059598510 cites W3027657896 @default.
• W2059598510 cites W4206678911 @default.
• W2059598510 doi "https://doi.org/10.1002/jbmr.130" @default.
• W2059598510 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20499337" @default.
• W2059598510 hasPublicationYear "2010" @default.
• W2059598510 type Work @default.
• W2059598510 sameAs 2059598510 @default.
• W2059598510 citedByCount "37" @default.
• W2059598510 countsByYear W20595985102013 @default.
• W2059598510 countsByYear W20595985102014 @default.
• W2059598510 countsByYear W20595985102015 @default.
• W2059598510 countsByYear W20595985102016 @default.
• W2059598510 countsByYear W20595985102017 @default.
• W2059598510 countsByYear W20595985102018 @default.
• W2059598510 countsByYear W20595985102019 @default.
• W2059598510 countsByYear W20595985102020 @default.
• W2059598510 countsByYear W20595985102021 @default.
• W2059598510 countsByYear W20595985102022 @default.
• W2059598510 countsByYear W20595985102023 @default.
• W2059598510 crossrefType "journal-article" @default.
• W2059598510 hasAuthorship W2059598510A5008846084 @default.
• W2059598510 hasAuthorship W2059598510A5009272710 @default.
• W2059598510 hasAuthorship W2059598510A5018740865 @default.
• W2059598510 hasAuthorship W2059598510A5036775753 @default.
• W2059598510 hasAuthorship W2059598510A5048457917 @default.
• W2059598510 hasAuthorship W2059598510A5053447705 @default.
• W2059598510 hasBestOaLocation W20595985101 @default.
• W2059598510 hasConcept C119795356 @default.
• W2059598510 hasConcept C125870589 @default.
• W2059598510 hasConcept C126322002 @default.
• W2059598510 hasConcept C131075544 @default.
• W2059598510 hasConcept C134018914 @default.
• W2059598510 hasConcept C160160445 @default.
• W2059598510 hasConcept C181199279 @default.
• W2059598510 hasConcept C185592680 @default.
• W2059598510 hasConcept C2777318727 @default.
• W2059598510 hasConcept C2781078528 @default.
• W2059598510 hasConcept C36880943 @default.
• W2059598510 hasConcept C55493867 @default.
• W2059598510 hasConcept C673006 @default.
• W2059598510 hasConcept C71924100 @default.
• W2059598510 hasConceptScore W2059598510C119795356 @default.
• W2059598510 hasConceptScore W2059598510C125870589 @default.
• W2059598510 hasConceptScore W2059598510C126322002 @default.
• W2059598510 hasConceptScore W2059598510C131075544 @default.
• W2059598510 hasConceptScore W2059598510C134018914 @default.

• next