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190 matches found
1
2
3
4
D - Tested
M 1
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".
Wanders RJ
Poll-The BT.
Biochemistry
- Peroxisome
Wanders RJ,
2017
1/10/2017
0 views
0 responses
0.0
FREE PDF
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.
Voukelatou P
Vrettos I
Kalliakmanis A.
Biochemistry
- Water Soluble Vitamins
Voukelatou P,
2016
12/1/2016
0 views
0 responses
0.0
FREE PDF
PMID: 27707936
Biosci Rep. 2016 12;36(6) Epub 2016 Nov 29.
Liver glucose metabolism in humans.
Adeva-Andany MM
Pérez-Felpete N
Fernández-Fernández C
Donapetry-García C
Pazos-García C.
Biochemistry
- Glycolysis
Adeva-Andany MM,
2016
12/1/2016
0 views
0 responses
0.0
D - Tested
M 1
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.
Miyahara S
Okita Y.
Biochemistry
- Elastin
Miyahara S,
2016
9/1/2016
0 views
0 responses
0.0
D - Tested
M 1
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.
Rallidis LS
Triantafyllis AS
Tsirebolos G
Katsaras D
Rallidi M
Moutsatsou P
Lekakis J.
Biochemistry
- Lipoprotein Disorders
Rallidis LS,
2016
6/1/2016
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Smid BE
Ferraz MJ
Verhoek M
Mirzaian M
Wisse P
Overkleeft HS
Hollak CE
Aerts JM.
Biochemistry
- Lysosome
Smid BE,
2016
3/24/2016
0 views
0 responses
0.0
FREE PDF
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.
Haq I
Irving JA
Saleh AD
Dron L
Regan-Mochrie GL
Motamedi-Shad N
Hurst JR
Gooptu B
Lomas DA.
Biochemistry
- Protein Folding and Degradation
Haq I,
2016
1/1/2016
0 views
0 responses
0.0
D - Tested
M 1
PMID: 26760593
Am Fam Physician. 2015 Dec 15;92(12):1069-76.
Management of Sickle Cell Disease: Recommendations from the 2014 Expert Panel Report.
Yawn BP
John-Sowah J.
Biochemistry
- Type of DNA Mutations
Yawn BP,
2015
12/15/2015
0 views
0 responses
0.0
FREE PDF
PMID: 26121317
Lab Invest. 2015 Sep;95(9):976-86. Epub 2015 Jun 29.
Clinical significance of the integrin α6β4 in human malignancies.
Stewart RL
O'Connor KL.
Biochemistry
- Cell Surface Proteins
Stewart RL,
2015
9/1/2015
4 views
4 responses
0.0
D - Tested
M 1
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.
Flores-Ramírez F
Palacios-Guerrero C
García-Delgado C
Morales-Jiménez AB
Arias-Villegas CM
Cervantes A
Morán-Barroso VF.
Biochemistry
- Chromosomal Diseases
Flores-Ramírez F,
2015
8/1/2015
0 views
0 responses
0.0
D - Tested
M 1
PMID: 26132126
Am Fam Physician. 2015 Jul 01;92(1):43-50.
Evaluation of Short and Tall Stature in Children.
Barstow C
Rerucha C.
Biochemistry
- Elastin
Barstow C,
2015
7/1/2015
0 views
0 responses
0.0
D - Tested
M 1
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.
Gil MM
Quezada MS
Revello R
Akolekar R
Nicolaides KH.
Biochemistry
- Chromosomal Diseases
Gil MM,
2015
3/1/2015
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Ishwar A
Tang Q
Fenton AW.
Biochemistry
- Glycolysis
Ishwar A,
2015
2/24/2015
0 views
0 responses
0.0
D - Tested
M 1
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.
Burnside RD.
Biochemistry
- Chromosomal Diseases
Burnside RD.,
2015
1/1/2015
0 views
0 responses
0.0
D - Tested
M 1
PMID: 25337734
Arq Neuropsiquiatr. 2014 Oct;72(10):803-11.
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?
Lorenzoni PJ
Scola RH
Kay CS
Silvado CE
Werneck LC.
Biochemistry
- Genetic Principles
Lorenzoni PJ,
2014
10/1/2014
0 views
0 responses
0.0
D - Tested
M 1
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.
Yawn BP
Buchanan GR
Afenyi-Annan AN
Ballas SK
Hassell KL
James AH
Jordan L
Lanzkron SM
Lottenberg R
Savage WJ
Tanabe PJ
Ware RE
Murad MH
Goldsmith JC
Ortiz E
Fulwood R
Horton A
John-Sowah J.
Biochemistry
- Type of DNA Mutations
Yawn BP,
JAMA
2014
9/10/2014
0 views
0 responses
0.0
D - Tested
M 1
PMID: 25417487
Harefuah. 2014 Sep;153(9):522-3, 559.
[Trisomy 18 and 13 and triploidy: the best way to diagnosis].
Odeh M.
Biochemistry
- Chromosomal Diseases
Odeh M.,
2014
9/1/2014
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Colussi TM
Costantino DA
Hammond JA
Ruehle GM
Nix JC
Kieft JS.
Biochemistry
- tRNA
Colussi TM,
NATURE
2014
7/17/2014
0 views
0 responses
0.0
D - Tested
M 1
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.
Makarona K
Caputo VS
Costa JR
Liu B
O'Connor D
Iskander D
Roper D
Robertson L
Bhatnagar N
Terpos E
Georgiou E
Papaioannou M
Layton DM
Luzzatto L
Roberts I
Karadimitris A.
Biochemistry
- HMP Shunt
Makarona K,
2014
7/3/2014
0 views
0 responses
0.0
D - Tested
M 1
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.
Frazier DM
Allgeier C
Homer C
Marriage BJ
Ogata B
Rohr F
Splett PL
Stembridge A
Singh RH.
Biochemistry
- Amino Acid Catabolism
Frazier DM,
2014
7/1/2014
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
PMID: 24881043
Haematologica. 2014 Jun;99(6):973-83.
Heme and erythropoieis: more than a structural role.
Chiabrando D
Mercurio S
Tolosano E.
Biochemistry
- Heme Metabolism
Chiabrando D,
2014
6/1/2014
0 views
0 responses
0.0
FREE PDF
PMID: 24891935
World J Cardiol. 2014 May 26;6(5):245-52.
Alcohol-induced hypertension: Mechanism and prevention.
Husain K
Ansari RA
Ferder L.
Biochemistry
- Ethanol Metabolism
Husain K,
2014
5/26/2014
0 views
0 responses
0.0
D - Tested
M 1
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.
Sun N
Zhao H.
Biochemistry
- Type of DNA Mutations
Sun N,
2014
5/1/2014
0 views
0 responses
0.0
D - Tested
M 1
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.
Chen XJ
Xu H
Cooper HM
Liu Y.
Biochemistry
- Microtubules
Chen XJ,
2014
4/1/2014
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Tamura D
DiGiovanna JJ
Khan SG
Kraemer KH.
Biochemistry
- DNA Repair
Tamura D,
2014
4/1/2014
0 views
0 responses
0.0
D - Tested
M 1
PMID: 24503533
Curr Opin Pediatr. 2014 Apr;26(2):169-76.
Evolving medical and surgical management of infants with trisomy 18.
Lorenz JM
Hardart GE.
Biochemistry
- Chromosomal Diseases
Lorenz JM,
2014
4/1/2014
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Koilkonda RD
Yu H
Chou TH
Feuer WJ
Ruggeri M
Porciatti V
Tse D
Hauswirth WW
Chiodo V
Boye SL
Lewin AS
Neuringer M
Renner L
Guy J.
Biochemistry
- Modes of Inheritance
Koilkonda RD,
2014
4/1/2014
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
PMID: 24764756
Genet Mol Biol. 2014 Mar;37(1 Suppl):220-33.
DNA repair diseases: What do they tell us about cancer and aging?
Menck CF
Munford V.
Biochemistry
- DNA Repair
Menck CF,
2014
3/1/2014
0 views
0 responses
0.0
D - Tested
FREE PDF
PMID: 24369379
Brain. 2014 Feb;137(Pt 2):335-53. Epub 2013 Dec 24.
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
Giordano C
Iommarini L
Giordano L
Maresca A
Pisano A
Valentino ML
Caporali L
Liguori R
Deceglie S
Roberti M
Fanelli F
Fracasso F
Ross-Cisneros FN
D'Adamo P
Hudson G
Pyle A
Yu-Wai-Man P
Chinnery PF
Zeviani M
Salomao SR
Berezovsky A
Belfort R Jr
Ventura DF
Moraes M
Moraes Filho M
Barboni P
Sadun F
De Negri A
Sadun AA
Tancredi A
Mancini M
d'Amati G
Loguercio Polosa P
Cantatore P
Carelli V.
Biochemistry
- Mitochondria
Giordano C,
2014
2/1/2014
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Chen H
Chan AY
Stone DU
Mandal NA.
Biochemistry
- Lysosome
Chen H,
2014
1/1/2014
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Oberhelman SS
Meekins ME
Fischer PR
Lee BR
Singh RJ
Cha SS
Gardner BM
Pettifor JM
Croghan IT
Thacher TD.
Biochemistry
- Fat Soluble Vitamins
Oberhelman SS,
2013
12/1/2013
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
PMID: 24248213
Nutrients. 2013 Nov 15;5(11):4521-39. Epub 2013 Nov 15.
Cobalamin deficiency: clinical picture and radiological findings.
Briani C
Dalla Torre C
Citton V
Manara R
Pompanin S
Binotto G
Adami F.
Biochemistry
- Water Soluble Vitamins
Briani C,
2013
11/15/2013
0 views
0 responses
0.0
D - Tested
M 1
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.
Nyathi Y
Wilkinson BM
Pool MR.
Biochemistry
- Protein Synthesis
Nyathi Y,
2013
11/1/2013
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Davies EG.
Biochemistry
- Chromosomal Diseases
Davies EG.,
2013
10/31/2013
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
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.
Yang Y
Muzny DM
Reid JG
Bainbridge MN
Willis A
Ward PA
Braxton A
Beuten J
Xia F
Niu Z
Hardison M
Person R
Bekheirnia MR
Leduc MS
Kirby A
Pham P
Scull J
Wang M
Ding Y
Plon SE
Lupski JR
Beaudet AL
Gibbs RA
Eng CM.
Biochemistry
- Type of DNA Mutations
Yang Y,
NEJM
2013
10/17/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 23701444
Br J Dermatol. 2013 Oct;169(4):927-30.
Evidence for a polygenic contribution to androgenetic alopecia.
Heilmann S
Brockschmidt FF
Hillmer AM
Hanneken S
Eigelshoven S
Ludwig KU
Herold C
Mangold E
Becker T
Kruse R
Knapp M
Nöthen MM.
Biochemistry
- Genetic Principles
Heilmann S,
2013
10/1/2013
0 views
0 responses
0.0
FREE PDF
PMID: 24065789
Diabetes. 2013 Oct;62(10):3324-8.
Novel hypothesis to explain why SGLT2 inhibitors inhibit only 30-50% of filtered glucose load in humans.
Abdul-Ghani MA
DeFronzo RA
Norton L.
Biochemistry
- Glycolysis
Abdul-Ghani MA,
2013
10/1/2013
0 views
0 responses
0.0
D - Tested
M 1
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.
Vignard J
Mirey G
Salles B.
Biochemistry
- DNA Repair
Vignard J,
2013
9/1/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 23965608
J ECT. 2013 Sep;29(3):e36-7.
Electroconvulsive therapy and Klinefelter syndrome.
Wei Q
Xie X
Chen Y
Tian Y
Wang H
Wang K
Wang K.
Biochemistry
- Karyotyping
Wei Q,
2013
9/1/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 24331359
Semin Pediatr Neurol. 2013 Sep;20(3):176-87. Epub 2013 Oct 9.
Mitochondrial dysfunction in epilepsy.
Khurana DS
Valencia I
Goldenthal MJ
Legido A.
Biochemistry
- Genetic Principles
Khurana DS,
2013
9/1/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 23939605
Am Fam Physician. 2013 Jul 01;88(1):44-53.
Early recognition and management of sepsis in adults: the first six hours.
Gauer RL.
Biochemistry
- Pyruvate Dehydrogenase Complex
Gauer RL.,
2013
7/1/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 23765643
Ultrasound Obstet Gynecol. 2013 Jul;42(1):15-33.
Non-invasive prenatal testing for aneuploidy: current status and future prospects.
Benn P
Cuckle H
Pergament E.
Biochemistry
- Chromosomal Diseases
Benn P,
2013
7/1/2013
0 views
0 responses
0.0
D - Tested
M 1
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.
Franker MA
Hoogenraad CC.
Biochemistry
- Microtubules
Franker MA,
2013
6/1/2013
0 views
0 responses
0.0
D - Tested
M 1
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).
Ranganath LR
Jarvis JC
Gallagher JA.
Biochemistry
- Amino Acid Catabolism
Ranganath LR,
CPATH
2013
5/1/2013
0 views
0 responses
0.0
FREE PDF
PMID: 23637309
Cold Spring Harb Perspect Med. 2013 May 01;3(5):a011700. Epub 2013 May 1.
The molecular basis of β-thalassemia.
Thein SL.
Biochemistry
- RNA Processing
Thein SL.,
2013
5/1/2013
0 views
0 responses
0.0
FREE PDF
PMID: 23506862
Mol Aspects Med. 2013 Apr-Jun;34(2-3):121-38.
The SLC2 (GLUT) family of membrane transporters.
Mueckler M
Thorens B.
Biochemistry
- Glucose Transport
Mueckler M,
2013
4/1/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 23547591
Am Fam Physician. 2013 Apr 01;87(7):494-501.
Appropriate and safe use of diagnostic imaging.
Crownover BK
Bepko JL.
Biochemistry
- DNA Repair
Crownover BK,
2013
4/1/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 22782502
Calcif Tissue Int. 2013 Feb;92(2):77-98. Epub 2012 Jul 11.
Molecular mechanisms of vitamin D action.
Haussler MR
Whitfield GK
Kaneko I
Haussler CA
Hsieh D
Hsieh JC
Jurutka PW.
Biochemistry
- Fat Soluble Vitamins
Haussler MR,
2013
2/1/2013
0 views
0 responses
0.0
D - Tested
M 1
PMID: 23301732
N Engl J Med. 2013 Jan 10;368(2):149-60.
Clinical practice. Vitamin B12 deficiency.
Stabler SP.
Biochemistry
- Water Soluble Vitamins
Stabler SP.,
NEJM
2013
1/10/2013
0 views
0 responses
0.0
D - Tested
M 1
FREE PDF
PMID: 23351378
BMB Rep. 2013 Jan;46(1):9-16.
When a ribosome encounters a premature termination codon.
Hwang J
Kim YK.
Biochemistry
- Protein Synthesis
Hwang J,
2013
1/1/2013
0 views
0 responses
0.0
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