Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: ACADM[original query] |
---|
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Human mutation 2005 May 25 (5): 443-52. Maier Esther M, Liebl Bernhard, Röschinger Wulf, Nennstiel-Ratzel Uta, Fingerhut Ralph, Olgemöller Bernhard, Busch Ulrich, Krone Nils, v Kries Rüdiger, Roscher Adelbert |
A genome-wide perspective of genetic variation in human metabolism.
Nature genetics 2009 Dec . Illig Thomas, Gieger Christian, Zhai Guangju, Römisch-Margl Werner, Wang-Sattler Rui, Prehn Cornelia, Altmaier Elisabeth, Kastenmüller Gabi, Kato Bernet S, Mewes Hans-Werner, Meitinger Thomas, de Angelis Martin Hrabé, Kronenberg Florian, Soranzo Nicole, Wichmann H-Erich, Spector Tim D, Adamski Jerzy, Suhre Karst |
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. Journal of inherited metabolic disease 2010 Dec 33 Suppl 3 S263-7. Al-Hassnan Zuhair N, Imtiaz Faiqa, Al-Amoudi Mohamed, Rahbeeni Zuhair, Al-Sayed Moeen, Al-Owain Mohammed, Al-Zaidan Hamad, Al-Odaib Ali, Rashed Mohamed |
The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load. BMC medical genetics 2011 12 4. Hornbak Malene, Banasik Karina, Justesen Johanne M, Krarup Nikolaj T, Sandholt Camilla H, Andersson Åsa, Sandbæk Annelli, Lauritzen Torsten, Pisinger Charlotta, Witte Daniel R, Sørensen Thorkild A A, Pedersen Oluf, Hansen Torb |
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant. Clinical biochemistry 2012 Oct 45 (15): 1167-72. Thodi Georgia, Georgiou Vassiliki, Molou Elina, Loukas Yannis L, Dotsikas Yannis, Biti Sofia, Papadopoulos Konstantinos, Doulgerakis Emmanu |
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet journal of rare diseases 2012 7 (1): 30. Touw Catharina M L, Smit G Peter A, de Vries Maaike, de Klerk Johannis B C, Bosch Annet M, Visser Gepke, Mulder Margot F, Rubio-Gozalbo M Estela, Elvers Bert, Niezen-Koning Klary E, Wanders Ronald J A, Waterham Hans R, Reijngoud Dirk-Jan, Derks Terry G |
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. PloS one 2012 7 (9): 9. Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U |
Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. Clinical genetics 2014 Mar 85 (3): 253-9. Leal J, Ades A E, Wordsworth S, Dezateux |
A genome-wide assessment of variability in human serum metabolism.
Human mutation 2012 Dec . Hong MG, Karlsson R, Magnusson PK, Lewis MR, Isaacs W, Zheng LS, Xu J, Grönberg H, Ingelsson E, Pawitan Y, Broeckling C, Prenni JE, Wiklund F, Prince JA |
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency. JIMD reports 2015 23 67-70. Aksglaede Lise, Christensen Mette, Olesen Jess H, Duno Morten, Olsen Rikke K J, Andresen Brage S, Hougaard David M, Lund Allan |
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height. Journal of medical genetics 2016 Feb . North Teri-Louise, Ben-Shlomo Yoav, Cooper Cyrus, Deary Ian J, Gallacher John, Kivimaki Mika, Kumari Meena, Martin Richard M, Pattie Alison, Sayer Avan Aihie, Starr John M, Wong Andrew, Kuh Diana, Rodriguez Santiago, Day Ian N |
Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
Journal of the American Society of Nephrology : JASN 2018 May 29 (5): 1513-1524. Li Yong, Sekula Peggy, Wuttke Matthias, Wahrheit Judith, Hausknecht Birgit, Schultheiss Ulla T, Gronwald Wolfram, Schlosser Pascal, Tucci Sara, Ekici Arif B, Spiekerkoetter Ute, Kronenberg Florian, Eckardt Kai-Uwe, Oefner Peter J, Köttgen Anna, |
Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.
Journal of the American Heart Association 2019 May 8 (10): e011922. Jia Qiong, Han Yi, Huang Pin, Woodward Nicholas C, Gukasyan Janet, Kettunen Johannes, Ala-Korpela Mika, Anufrieva Olga, Wang Qin, Perola Markus, Raitakari Olli, Lehtimäki Terho, Viikari Jorma, Järvelin Marjo-Riitta, Boehnke Michael, Laakso Markku, Mohlke Karen L, Fiehn Oliver, Wang Zeneng, Tang W H Wilson, Hazen Stanley L, Hartiala Jaana A, Allayee Hoom |
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population. Pediatrics international : official journal of the Japan Pediatric Society 2019 4 61 (6): 551-557. Li Yanhan, Zhu Ruoxin, Liu Yi, Song Jinqing, Xu Jing, Yang Yanli |
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Molecular genetics and metabolism 2019 12 129 (1): 13-19. Anderson Daniela R, Viau Krista, Botto Lorenzo D, Pasquali Marzia, Longo Nico |
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019 1 21 (1): 52-57. Tong Fan, Jiang Ping-Ping, Yang Ru-Lai, Huang Xiao-Lei, Zhou Xue-Lian, Hong Fang, Qian Gu-Ling, Zhao Zheng-Yan, Shu Qia |
Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report. International journal of legal medicine 2020 6 134 (5): 1639-1645. Heathfield Laura Jane, Bhengu Wenelisile, Louw Susan, Martin Lorna Jean, Ramesar R |
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population. Journal of pediatric endocrinology & metabolism : JPEM 2022 9 35 (10): 1264-1271. Li Yu-Yu, Xu Jia, Sun Xue-Cheng, Li Hong-Yu, Mu K |
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China. Clinica chimica acta; international journal of clinical chemistry 2022 9 536 155-161. Tian Yuan, Zhu Xinyun, Lv Shubo, Jia Chenlu, Zhang Linlin, Ni Min, Xu Yizhuo, Peng Rui, Liu Suna, Zhao Deh |
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Annals of clinical and translational neurology 2022 1 9 (2): 193-205. Chopra Maya, Gable Dustin L, Love-Nichols Jamie, Tsao Alexa, Rockowitz Shira, Sliz Piotr, Barkoudah Elizabeth, Bastianelli Lucia, Coulter David, Davidson Emily, DeGusmao Claudio, Fogelman David, Huth Kathleen, Marshall Paige, Nimec Donna, Sanders Jessica Solomon, Shore Benjamin J, Snyder Brian, Stone Scellig S D, Ubeda Ana, Watkins Colyn, Berde Charles, Bolton Jeffrey, Brownstein Catherine, Costigan Michael, Ebrahimi-Fakhari Darius, Lai Abbe, O'Donnell-Luria Anne, Paciorkowski Alex R, Pinto Anna, Pugh John, Rodan Lance, Roe Eugene, Swanson Lindsay, Zhang Bo, Kruer Michael C, Sahin Mustafa, Poduri Annapurna, Srivastava Siddhar |
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. European journal of medical genetics 2022 1 65 (2): 104426. Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny |
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation. Clinical genetics 2023 2 . Weiss Katharina J, Berger Ursula, Haider Maliha, Wagner Matias, Märtner E M Charlotte, Regenauer-Vandewiele Stephanie, Lotz-Havla Amelie, Schuhmann Elfriede, Röschinger Wulf, Maier Esther |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: