Biochemistry Evidence Board

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180 matches found 1 2 ... 9
Tested
M1
PMID: 26095698
Neurosci Lett. 2017 01 10;637:11-17. Epub 2015 Jun 18.
"Role of peroxisomes in human lipid metabolism and its importance for neurological development".
  • Biochemistry
  • - Peroxisome
Wanders RJ 2017
0 responses
PMID: 28031855
Oxf Med Case Reports. 2016 Dec;2016(12):omw091. Epub 2016 Dec 1.
Neurologic symptoms as the only manifestation of B12 deficiency in a young patient with normal hematocrit, MCV, peripheral blood smear and homocysteine levels.
  • Biochemistry
  • - Water Soluble Vitamins
Voukelatou P 2016
0 responses
Tested
M1
PMID: 26586198
Surg Today. 2016 Sep;46(9):1006-18. Epub 2015 Nov 19.
Overview of current surgical strategies for aortic disease in patients with Marfan syndrome.
  • Biochemistry
  • - Elastin
Miyahara S 2016
0 responses
Tested
M1
PMID: 27062405
Atherosclerosis. 2016 Jun;249:17-21. Epub 2016 Mar 18.
Prevalence of heterozygous familial hypercholesterolaemia and its impact on long-term prognosis in patients with very early ST-segment elevation myocardial infarction in the era of statins.
  • Biochemistry
  • - Lipoprotein Disorders
Rallidis LS 2016
0 responses
Tested
M1
PMID: 27008851
Orphanet J Rare Dis. 2016 Mar 24;11:28. Epub 2016 Mar 24.
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
  • Biochemistry
  • - Lysosome
Smid BE 2016
0 responses
PMID: 26091018
Am J Respir Cell Mol Biol. 2016 Jan;54(1):71-80.
Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization.
  • Biochemistry
  • - Protein Folding and Degradation
Haq I 2016
0 responses
Tested
M1
PMID: 26760593
Am Fam Physician. 2015 Dec 15;92(12):1069-76.
Management of Sickle Cell Disease: Recommendations from the 2014 Expert Panel Report.
  • Biochemistry
  • - Type of DNA Mutations
Yawn BP 2015
0 responses
PMID: 26121317
Lab Invest. 2015 Sep;95(9):976-86. Epub 2015 Jun 29.
Clinical significance of the integrin α6β4 in human malignancies.
  • Biochemistry
  • - Cell Surface Proteins
Stewart RL 2015
4 responses
Tested
M1
PMID: 26314225
Arch Med Res. 2015 Aug;46(6):484-9. Epub 2015 Aug 24.
Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.
  • Biochemistry
  • - Chromosomal Diseases
Flores-Ramírez F 2015
0 responses
Tested
M1
PMID: 26132126
Am Fam Physician. 2015 Jul 01;92(1):43-50.
Evaluation of Short and Tall Stature in Children.
  • Biochemistry
  • - Elastin
Barstow C 2015
0 responses
Tested
M1
PMID: 25639627
Ultrasound Obstet Gynecol. 2015 Mar;45(3):249-66. Epub 2015 Feb 1.
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.
  • Biochemistry
  • - Chromosomal Diseases
Gil MM 2015
0 responses
Tested
M1
PMID: 25629396
Biochemistry. 2015 Feb 24;54(7):1516-24. Epub 2015 Feb 12.
Distinguishing the interactions in the fructose 1,6-bisphosphate binding site of human liver pyruvate kinase that contribute to allostery.
  • Biochemistry
  • - Glycolysis
Ishwar A 2015
0 responses
Tested
M1
PMID: 26278718
Cytogenet Genome Res. 2015;146(2):89-99. Epub 2015 Aug 8.
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.
  • Biochemistry
  • - Chromosomal Diseases
Burnside RD. 2015
0 responses
Tested
M1
PMID: 25337734
Arq Neuropsiquiatr. 2014 Oct;72(10):803-11.
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?
  • Biochemistry
  • - Genetic Principles
Lorenzoni PJ 2014
0 responses
Tested
M1
PMID: 25203083
JAMA. 2014 Sep 10;312(10):1033-48.
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members.
  • Biochemistry
  • - Type of DNA Mutations
Yawn BP , JAMA 2014
0 responses
Tested
M1
PMID: 25417487
Harefuah. 2014 Sep;153(9):522-3, 559.
[Trisomy 18 and 13 and triploidy: the best way to diagnosis].
  • Biochemistry
  • - Chromosomal Diseases
Odeh M. 2014
0 responses
Tested
M1
PMID: 24909993
Nature. 2014 Jul 17;511(7509):366-9. Epub 2014 Jun 8.
The structural basis of transfer RNA mimicry and conformational plasticity by a viral RNA.
  • Biochemistry
  • - tRNA
Colussi TM , NATURE 2014
0 responses
Tested
M1
PMID: 24805191
Blood. 2014 Jul 03;124(1):134-41. Epub 2014 May 7.
Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells.
  • Biochemistry
  • - HMP Shunt
Makarona K 2014
0 responses
Tested
M1
PMID: 24881969
Mol Genet Metab. 2014 Jul;112(3):210-7. Epub 2014 May 17.
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
  • Biochemistry
  • - Amino Acid Catabolism
Frazier DM 2014
0 responses
Tested
M1
PMID: 24881043
Haematologica. 2014 Jun;99(6):973-83.
Heme and erythropoieis: more than a structural role.
  • Biochemistry
  • - Heme Metabolism
Chiabrando D 2014
0 responses
PMID: 24891935
World J Cardiol. 2014 May 26;6(5):245-52.
Alcohol-induced hypertension: Mechanism and prevention.
  • Biochemistry
  • - Ethanol Metabolism
Husain K 2014
0 responses
Tested
M1
PMID: 23928856
Biotechnol Bioeng. 2014 May;111(5):1048-53. Epub 2013 Aug 26.
Seamless correction of the sickle cell disease mutation of the HBB gene in human induced pluripotent stem cells using TALENs.
  • Biochemistry
  • - Type of DNA Mutations
Sun N 2014
0 responses
Tested
M1
PMID: 24417420
Photodermatol Photoimmunol Photomed. 2014 Apr-Jun;30(2-3):146-52. Epub 2014 Feb 19.
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
  • Biochemistry
  • - DNA Repair
Tamura D 2014
0 responses
Tested
M1
PMID: 24457989
JAMA Ophthalmol. 2014 Apr 01;132(4):409-20.
Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial.
  • Biochemistry
  • - Modes of Inheritance
Koilkonda RD 2014
0 responses
Tested
M1
PMID: 24503533
Curr Opin Pediatr. 2014 Apr;26(2):169-76.
Evolving medical and surgical management of infants with trisomy 18.
  • Biochemistry
  • - Chromosomal Diseases
Lorenz JM 2014
0 responses
Tested
M1
PMID: 24664850
Sci China Life Sci. 2014 Apr;57(4):372-7. Epub 2014 Mar 24.
Cytoplasmic dynein: a key player in neurodegenerative and neurodevelopmental diseases.
  • Biochemistry
  • - Microtubules
Chen XJ 2014
0 responses
Tested
M1
PMID: 24764756
Genet Mol Biol. 2014 Mar;37(1 Suppl):220-33.
DNA repair diseases: What do they tell us about cancer and aging?
  • Biochemistry
  • - DNA Repair
Menck CF 2014
0 responses
Tested
M1
PMID: 24011710
Surv Ophthalmol. 2014 Jan-Feb;59(1):64-76. Epub 2013 Sep 5.
Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders.
  • Biochemistry
  • - Lysosome
Chen H 2014
0 responses
Tested
M1
PMID: 24290111
Mayo Clin Proc. 2013 Dec;88(12):1378-87.
Maternal vitamin D supplementation to improve the vitamin D status of breast-fed infants: a randomized controlled trial.
  • Biochemistry
  • - Fat Soluble Vitamins
Oberhelman SS 2013
0 responses
Tested
M1
PMID: 24248213
Nutrients. 2013 Nov 15;5(11):4521-39. Epub 2013 Nov 15.
Cobalamin deficiency: clinical picture and radiological findings.
  • Biochemistry
  • - Water Soluble Vitamins
Briani C 2013
0 responses
Tested
M1
PMID: 23481039
Biochim Biophys Acta. 2013 Nov;1833(11):2392-402. Epub 2013 Feb 26.
Co-translational targeting and translocation of proteins to the endoplasmic reticulum.
  • Biochemistry
  • - Protein Synthesis
Nyathi Y 2013
0 responses
Tested
M1
PMID: 24198816
Front Immunol. 2013 Oct 31;4:322. Epub 2013 Oct 31.
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.
  • Biochemistry
  • - Chromosomal Diseases
Davies EG. 2013
0 responses
Tested
M1
PMID: 24088041
N Engl J Med. 2013 Oct 17;369(16):1502-11. Epub 2013 Oct 2.
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
  • Biochemistry
  • - Type of DNA Mutations
Yang Y , NEJM 2013
0 responses
Tested
M1
PMID: 23701444
Br J Dermatol. 2013 Oct;169(4):927-30.
Evidence for a polygenic contribution to androgenetic alopecia.
  • Biochemistry
  • - Genetic Principles
Heilmann S 2013
0 responses
Tested
M1
PMID: 23849169
Radiother Oncol. 2013 Sep;108(3):362-9. Epub 2013 Jul 9.
Ionizing-radiation induced DNA double-strand breaks: a direct and indirect lighting up.
  • Biochemistry
  • - DNA Repair
Vignard J 2013
0 responses
Tested
M1
PMID: 23965608
J ECT. 2013 Sep;29(3):e36-7.
Electroconvulsive therapy and Klinefelter syndrome.
  • Biochemistry
  • - Karyotyping
Wei Q 2013
0 responses
Tested
M1
PMID: 24331359
Semin Pediatr Neurol. 2013 Sep;20(3):176-87. Epub 2013 Oct 9.
Mitochondrial dysfunction in epilepsy.
  • Biochemistry
  • - Genetic Principles
Khurana DS 2013
0 responses
Tested
M1
PMID: 23765643
Ultrasound Obstet Gynecol. 2013 Jul;42(1):15-33.
Non-invasive prenatal testing for aneuploidy: current status and future prospects.
  • Biochemistry
  • - Chromosomal Diseases
Benn P 2013
0 responses
Tested
M1
PMID: 23939605
Am Fam Physician. 2013 Jul 01;88(1):44-53.
Early recognition and management of sepsis in adults: the first six hours.
  • Biochemistry
  • - Pyruvate Dehydrogenase Complex
Gauer RL. 2013
0 responses
Tested
M1
PMID: 23729742
J Cell Sci. 2013 Jun 01;126(Pt 11):2319-29. Epub 2013 May 31.
Microtubule-based transport - basic mechanisms, traffic rules and role in neurological pathogenesis.
  • Biochemistry
  • - Microtubules
Franker MA 2013
0 responses
Tested
M1
PMID: 23486607
J Clin Pathol. 2013 May;66(5):367-73. Epub 2013 Mar 13.
Recent advances in management of alkaptonuria (invited review; best practice article).
  • Biochemistry
  • - Amino Acid Catabolism
Ranganath LR , CPATH 2013
0 responses
Tested
M1
PMID: 23547591
Am Fam Physician. 2013 Apr 01;87(7):494-501.
Appropriate and safe use of diagnostic imaging.
  • Biochemistry
  • - DNA Repair
Crownover BK 2013
0 responses
PMID: 23506862
Mol Aspects Med. 2013 Apr-Jun;34(2-3):121-38.
The SLC2 (GLUT) family of membrane transporters.
  • Biochemistry
  • - Glucose Transport
Mueckler M 2013
0 responses
Tested
M1
PMID: 22782502
Calcif Tissue Int. 2013 Feb;92(2):77-98. Epub 2012 Jul 11.
Molecular mechanisms of vitamin D action.
  • Biochemistry
  • - Fat Soluble Vitamins
Haussler MR 2013
0 responses
Tested
M1
PMID: 23301732
N Engl J Med. 2013 Jan 10;368(2):149-60.
Clinical practice. Vitamin B12 deficiency.
  • Biochemistry
  • - Water Soluble Vitamins
Stabler SP. , NEJM 2013
0 responses
Tested
M1
PMID: 23351378
BMB Rep. 2013 Jan;46(1):9-16.
When a ribosome encounters a premature termination codon.
  • Biochemistry
  • - Protein Synthesis
Hwang J 2013
0 responses
Tested
M1
PMID: 23746253
Annu Rev Biochem. 2013;82:25-54.
Mechanisms for initiating cellular DNA replication.
  • Biochemistry
  • - DNA Replication
Costa A 2013
0 responses
Tested
M1
PMID: 22963910
Mol Genet Metab. 2012 Nov;107(3):267-75. Epub 2012 Aug 11.
Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.
  • Biochemistry
  • - Lysosome
Pisani A 2012
0 responses
Tested
M1
PMID: 23083810
Trends Mol Med. 2012 Nov;18(11):679-88. Epub 2012 Oct 17.
Sense from nonsense: therapies for premature stop codon diseases.
  • Biochemistry
  • - Protein Synthesis
Bidou L 2012
0 responses
PMID: 24159692
Pak J Biol Sci. 2012 Oct 01;15(19):947-50.
Lipid profile of women using oral contraceptive pills.
  • Biochemistry
  • - Lipoprotein Disorders
Naz F 2012
0 responses