https://scholars.lib.ntu.edu.tw/handle/123456789/461589
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Chu T.-H. | en_US |
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | Lin H.-Y. | en_US |
dc.contributor.author | Liao H.-C. | en_US |
dc.contributor.author | Ho H.-J. | en_US |
dc.contributor.author | Lai C.-J. | en_US |
dc.contributor.author | Chiang C.-C. | en_US |
dc.contributor.author | Lin N.-C. | en_US |
dc.contributor.author | Yang C.-F. | en_US |
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.contributor.author | NI-CHUNG LEE | en_US |
dc.contributor.author | Lin S.-P. | en_US |
dc.contributor.author | Liu C.-S. | en_US |
dc.contributor.author | REY-HENG HU | en_US |
dc.contributor.author | MING-CHIH HO | en_US |
dc.contributor.author | Niu D.-M. | en_US |
dc.creator | Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ming-Chih Ho;Niu D.-M. | - |
dc.date.accessioned | 2020-02-19T09:33:39Z | - |
dc.date.available | 2020-02-19T09:33:39Z | - |
dc.date.issued | 2019 | - |
dc.identifier.issn | 1750-1172 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063781342&doi=10.1186%2fs13023-019-1045-1&partnerID=40&md5=7230488435ec1820bf41ef9977f113c2 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/461589 | - |
dc.description.abstract | Background: Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiwan from January, 2000 and data was collected until December, 2016. Results: During the study period, 3,155,263 newborns were screened. The overall incidence of MMA mutase type cases was 1/121,356 (n = 26), 1 cobalamin B was detected and that for PA cases (n = 4) was 1/788,816. The time of referral is 8.8 days for MMA patients, and 7.5 days for PA patients. The MMA mutase type patients have higher AST, ALT, and NH 3 values as well as a lower pH value (p < 0.05). The mean age for liver transplantation (LT) is 402 days (range from 0.6-6.7 yr) with 16 out of 20 cases (80.0%) using living donors. The mean admission length shortened from 90.6 days/year (pre-LT) to 5.3 days/year (at 3rd year post-LT) (p < 0.0005). Similarly, the tube feeding ratio decreased from 67.8 to 0.50% (p < 0.00005). The anxiety level of the caregiver was reduced from 33.4 to 27.2 after LT (p = 0.001) and the DQ/IQ performance of the patients was improved after LT from 50 to 60.1 (p = 0.07). Conclusion: MMA/PA patients with LT do survive and have reduced admission time, reduced tube feeding and the caregiver is less anxious. ? 2019 The Author(s). | - |
dc.publisher | BioMed Central Ltd. | - |
dc.relation.ispartof | Orphanet Journal of Rare Diseases | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | acetylcarnitine; alanine aminotransferase; ammonia; aspartate aminotransferase; cobalamin; cobalamin B; methylmalonyl coenzyme A mutase; propionylcarnitine; unclassified drug; alanine aminotransferase blood level; anxiety; Article; aspartate aminotransferase blood level; biochemical analysis; caregiver burden; child; clinical article; comparative study; controlled study; development; developmental quotient; enteric feeding; female; functional assessment; human; infant; intelligence quotient; length of stay; liver transplantation; living donor; male; methylmalonic acidemia; newborn; newborn screening; outcome assessment; patient referral; pH; propionic acidemia; school child; survival rate; Taiwan; caregiver; disorders of amino acid and protein metabolism; genetics; hospitalization; liver transplantation; mortality; mutation; pathophysiology; propionic acidemia; psychology; treatment outcome; Amino Acid Metabolism, Inborn Errors; Caregivers; Enteral Nutrition; Female; Hospitalization; Humans; Infant, Newborn; Liver Transplantation; Male; Mutation; Neonatal Screening; Propionic Acidemia; Taiwan; Treatment Outcome | - |
dc.title | Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1186/s13023-019-1045-1 | - |
dc.identifier.pmid | 30940196 | - |
dc.identifier.scopus | 2-s2.0-85063781342 | - |
dc.relation.journalvolume | 14 | - |
dc.relation.journalissue | 1 | - |
item.fulltext | no fulltext | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Surgery | - |
crisitem.author.dept | Surgery-NTUH | - |
crisitem.author.dept | Surgery-NTUH | - |
crisitem.author.dept | Surgery | - |
crisitem.author.dept | Surgery-NTUHBH | - |
crisitem.author.orcid | 0000-0001-8802-5728 | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.orcid | 0000-0002-5011-7499 | - |
crisitem.author.orcid | 0000-0001-6709-031X | - |
crisitem.author.orcid | 0000-0003-3660-1062 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital Bei-Hu Branch | - |
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