Literature DB >> 18281923

Acylcarnitine profile analysis.

Piero Rinaldo1, Tina M Cowan, Dietrich Matern.   

Abstract

These Technical Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date.

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Year:  2008        PMID: 18281923     DOI: 10.1097/GIM.0b013e3181614289

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  79 in total

1.  An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.

Authors:  Tereza Moore; Anthony Le; Tina M Cowan
Journal:  J Inherit Metab Dis       Date:  2011-10-18       Impact factor: 4.982

2.  Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.

Authors:  Colin S McCoin; Brian D Piccolo; Trina A Knotts; Dietrich Matern; Jerry Vockley; Melanie B Gillingham; Sean H Adams
Journal:  J Inherit Metab Dis       Date:  2016-02-23       Impact factor: 4.982

3.  Integrative metabolome and transcriptome profiling reveals discordant energetic stress between mouse strains with differential sensitivity to acrolein-induced acute lung injury.

Authors:  James P Fabisiak; Mario Medvedovic; Danny C Alexander; Jonathan E McDunn; Vincent J Concel; Kiflai Bein; An Soo Jang; Annerose Berndt; Louis J Vuga; Kelly A Brant; Hannah Pope-Varsalona; Richard A Dopico; Koustav Ganguly; Swapna Upadhyay; Qian Li; Zhen Hu; Naftali Kaminski; George D Leikauf
Journal:  Mol Nutr Food Res       Date:  2011-08-08       Impact factor: 5.914

4.  A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Authors:  Hilary J Vernon; C John Sperati; Joshua D King; Andrea Poretti; Neil R Miller; Jennifer L Sloan; Andrew M Cameron; Donna Myers; Charles P Venditti; David Valle
Journal:  J Inherit Metab Dis       Date:  2014-06-25       Impact factor: 4.982

5.  Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.

Authors:  Arianna Franca Anzmann; Sneha Pinto; Veronica Busa; James Carlson; Susan McRitchie; Susan Sumner; Akhilesh Pandey; Hilary J Vernon
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2019-08-23       Impact factor: 5.187

6.  Combination of host immune metabolic biomarkers for the PD-1 blockade cancer immunotherapy.

Authors:  Ryusuke Hatae; Kenji Chamoto; Young Hak Kim; Kazuhiro Sonomura; Kei Taneishi; Shuji Kawaguchi; Hironori Yoshida; Hiroaki Ozasa; Yuichi Sakamori; Maryam Akrami; Sidonia Fagarasan; Izuru Masuda; Yasushi Okuno; Fumihiko Matsuda; Toyohiro Hirai; Tasuku Honjo
Journal:  JCI Insight       Date:  2020-01-30

7.  Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Authors:  Jaffar Alfardan; Al-Walid Mohsen; Sara Copeland; Jay Ellison; Laura Keppen-Davis; Marianne Rohrbach; Berkley R Powell; Jane Gillis; Dietrich Matern; Jeffrey Kant; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2010-05-23       Impact factor: 4.797

8.  Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants.

Authors:  Brian Kirmse; Charlotte V Hobbs; Inga Peter; Bryan Laplante; Michele Caggana; Karen Kloke; Kimiyo Raymond; Marshall Summar; William Borkowsky
Journal:  Pediatr Infect Dis J       Date:  2013-02       Impact factor: 2.129

9.  Developmental programming: exposure to testosterone excess disrupts steroidal and metabolic environment in pregnant sheep.

Authors:  B Abi Salloum; A Veiga-Lopez; D H Abbott; C F Burant; V Padmanabhan
Journal:  Endocrinology       Date:  2015-03-12       Impact factor: 4.736

10.  Plasma acylcarnitines and risk of cardiovascular disease: effect of Mediterranean diet interventions.

Authors:  Marta Guasch-Ferré; Yan Zheng; Miguel Ruiz-Canela; Adela Hruby; Miguel A Martínez-González; Clary B Clish; Dolores Corella; Ramon Estruch; Emilio Ros; Montserrat Fitó; Courtney Dennis; Isabel M Morales-Gil; Fernando Arós; Miquel Fiol; José Lapetra; Lluís Serra-Majem; Frank B Hu; Jordi Salas-Salvadó
Journal:  Am J Clin Nutr       Date:  2016-04-20       Impact factor: 7.045

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