FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079114612> ?p ?o ?g. }

• W2079114612 endingPage "135" @default.
• W2079114612 startingPage "127" @default.
• W2079114612 abstract "Abstract Cobalamin C (Cbl‐C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl‐C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The gene responsible for the Cbl‐C defect has been recently identified, and more than 40 mutations have been reported. MMACHC gene is located on chromosome 1p and catalyzes the reductive decyanation of CNCbl. Cbl‐C patients present with a heterogeneous clinical picture and, based on their age at onset, can be categorized into two distinct clinical forms. Early‐onset patients, presenting symptoms within the first year, show a multisystem disease with severe neurological, ocular, haematological, renal, gastrointestinal, cardiac, and pulmonary manifestations. Late‐onset patients present a milder clinical phenotype with acute or slowly progressive neurological symptoms and behavioral disturbances. To improve clinical course and metabolic abnormalities, treatment of Cbl‐C defect usually consists of a combined approach that utilizes vitamin B12 to increase intracellular cobalamin and to maximize deficient enzyme activities, betaine to provide a substrate for the conversion of homocysteine into methionine through betaine‐homocysteine methyltransferase, and folic acid to enhance remethylation pathway. No proven efficacy has been demonstrated for carnitine and dietary protein restriction. Despite these measures, the long‐term follow‐up is unsatisfactory especially in patients with early onset, with frequent progression of neurological and ocular impairment. The unfavorable outcome suggests that better understanding of the pathophysiology of the disease is needed to improve treatment protocols and to develop new therapeutic approaches." @default.
• W2079114612 created "2016-06-24" @default.
• W2079114612 creator A5065871384 @default.
• W2079114612 creator A5087472564 @default.
• W2079114612 creator A5087777712 @default.
• W2079114612 date "2010-07-15" @default.
• W2079114612 modified "2023-10-05" @default.
• W2079114612 title "Cobalamin C defect: natural history, pathophysiology, and treatment" @default.
• W2079114612 cites W145546234 @default.
• W2079114612 cites W1508961223 @default.
• W2079114612 cites W1592978175 @default.
• W2079114612 cites W1945836171 @default.
• W2079114612 cites W1955583657 @default.
• W2079114612 cites W1965047178 @default.
• W2079114612 cites W1968275690 @default.
• W2079114612 cites W1971906572 @default.
• W2079114612 cites W1972042719 @default.
• W2079114612 cites W1972215954 @default.
• W2079114612 cites W1973262220 @default.
• W2079114612 cites W1981909524 @default.
• W2079114612 cites W1982492435 @default.
• W2079114612 cites W1985946354 @default.
• W2079114612 cites W1990693731 @default.
• W2079114612 cites W1991598211 @default.
• W2079114612 cites W1992027305 @default.
• W2079114612 cites W1993380416 @default.
• W2079114612 cites W1995596981 @default.
• W2079114612 cites W1997910323 @default.
• W2079114612 cites W1998231134 @default.
• W2079114612 cites W2002087021 @default.
• W2079114612 cites W2002129512 @default.
• W2079114612 cites W2003766162 @default.
• W2079114612 cites W2004507463 @default.
• W2079114612 cites W2005593436 @default.
• W2079114612 cites W2009916513 @default.
• W2079114612 cites W2014072118 @default.
• W2079114612 cites W2019403967 @default.
• W2079114612 cites W2020367023 @default.
• W2079114612 cites W2020529549 @default.
• W2079114612 cites W2021415901 @default.
• W2079114612 cites W2026123101 @default.
• W2079114612 cites W2026663403 @default.
• W2079114612 cites W2028596519 @default.
• W2079114612 cites W2033620219 @default.
• W2079114612 cites W2034446843 @default.
• W2079114612 cites W2034639072 @default.
• W2079114612 cites W2035794988 @default.
• W2079114612 cites W2038031345 @default.
• W2079114612 cites W2038800468 @default.
• W2079114612 cites W2046181144 @default.
• W2079114612 cites W2048622166 @default.
• W2079114612 cites W2051543561 @default.
• W2079114612 cites W2051686810 @default.
• W2079114612 cites W2052211882 @default.
• W2079114612 cites W2053364518 @default.
• W2079114612 cites W2054231509 @default.
• W2079114612 cites W2054243219 @default.
• W2079114612 cites W2055387293 @default.
• W2079114612 cites W2056313120 @default.
• W2079114612 cites W2057720371 @default.
• W2079114612 cites W2059039485 @default.
• W2079114612 cites W2059042821 @default.
• W2079114612 cites W2062685874 @default.
• W2079114612 cites W2064314198 @default.
• W2079114612 cites W2072982448 @default.
• W2079114612 cites W2074049757 @default.
• W2079114612 cites W2077072367 @default.
• W2079114612 cites W2078170896 @default.
• W2079114612 cites W2081466147 @default.
• W2079114612 cites W2083574778 @default.
• W2079114612 cites W2085297752 @default.
• W2079114612 cites W2089568512 @default.
• W2079114612 cites W2090122190 @default.
• W2079114612 cites W2091910157 @default.
• W2079114612 cites W2091917308 @default.
• W2079114612 cites W2103445812 @default.
• W2079114612 cites W2106612266 @default.
• W2079114612 cites W2114342138 @default.
• W2079114612 cites W2126230337 @default.
• W2079114612 cites W2127462854 @default.
• W2079114612 cites W2129610061 @default.
• W2079114612 cites W2144178379 @default.
• W2079114612 cites W2156435321 @default.
• W2079114612 cites W2156930745 @default.
• W2079114612 cites W2162465135 @default.
• W2079114612 cites W2167665672 @default.
• W2079114612 cites W2172247332 @default.
• W2079114612 cites W2323783182 @default.
• W2079114612 cites W2400390722 @default.
• W2079114612 cites W2463543614 @default.
• W2079114612 cites W27754594 @default.
• W2079114612 cites W4230210723 @default.
• W2079114612 cites W4232451995 @default.
• W2079114612 doi "https://doi.org/10.1007/s10545-010-9161-z" @default.
• W2079114612 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20632110" @default.
• W2079114612 hasPublicationYear "2010" @default.
• W2079114612 type Work @default.
• W2079114612 sameAs 2079114612 @default.

• next