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1 31366145
Demine S 2019
Mitochondrial Uncoupling: A Key Controller of Biological Processes in Physiology and Diseases. Biochemistry
E
  PDF
2 31333129
Butler MG 2019
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. Biochemistry
E
  PDF
3 30740407
Sun A. 2018
Lysosomal storage disease overview. Biochemistry
E
  PDF
4 30132032
Ghezzi C 2018
Physiology of renal glucose handling via SGLT1, SGLT2 and GLUT2. Biochemistry
E
  PDF
5 30132033
Rieg T 2018
Development of SGLT1 and SGLT2 inhibitors. Biochemistry
E
  PDF
6 29624415
Koch CM 2018
A Beginner's Guide to Analysis of RNA Sequencing Data. Biochemistry
E
  PDF
7 29405265
Goo M 2018
Muscle tone assessments for children aged 0 to 12 years: a systematic review. Biochemistry
E
8 30733709
Zhang X 2018
Unraveling the Regulation of Hepatic Gluconeogenesis. Biochemistry
E
  PDF
9 28375166
Lorenz C 2017
tRNA Modifications: Impact on Structure and Thermal Adaptation. Biochemistry
E
  PDF
10 26095698
Wanders RJ 2017
"Role of peroxisomes in human lipid metabolism and its importance for neurological development". Biochemistry
M 1
D
11 27562932
Ramovs V 2017
The opposing roles of laminin-binding integrins in cancer. Biochemistry
E
12 27707936
Adeva-Andany MM 2016
Liver glucose metabolism in humans. Biochemistry
E
  PDF
13 28031855
Voukelatou P 2016
Neurologic symptoms as the only manifestation of B12 deficiency in a young patient with normal hematocrit, MCV, peripheral blood smear and homocysteine levels. Biochemistry
E
  PDF
14 27920633
Bell S 2016
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. Biochemistry
E
  PDF
15 27920633
Bell S 2016
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. Biochemistry
E
  PDF
16 27615419
Buiting K 2016
Angelman syndrome - insights into a rare neurogenetic disorder. Biochemistry
E
17 26586198
Miyahara S 2016
Overview of current surgical strategies for aortic disease in patients with Marfan syndrome. Biochemistry
M 1
D
18 27062405
Rallidis LS 2016
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
M 1
D
19 27008851
Smid BE 2016
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. Biochemistry
M 1
D
  PDF
20 26791911
Rozov A 2016
Novel base-pairing interactions at the tRNA wobble position crucial for accurate reading of the genetic code. Biochemistry
E
  PDF
21 26091018
Haq I 2016
Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization. Biochemistry
E
  PDF
22 26760593
Yawn BP 2015
Management of Sickle Cell Disease: Recommendations from the 2014 Expert Panel Report. Biochemistry
M 1
D
23 26062517
Angulo MA 2015
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. Biochemistry
E
  PDF
24 26121317
Stewart RL 2015
Clinical significance of the integrin α6β4 in human malignancies. Biochemistry
E
  PDF
25 26314225
Flores-Ramírez F 2015
Cytogenetic profile in 1,921 cases of trisomy 21 syndrome. Biochemistry
M 1
D
26 26132126
Barstow C 2015
Evaluation of Short and Tall Stature in Children. Biochemistry
M 1
D
27 25639627
Gil MM 2015
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Biochemistry
M 1
D
28 25629396
Ishwar A 2015
Distinguishing the interactions in the fructose 1,6-bisphosphate binding site of human liver pyruvate kinase that contribute to allostery. Biochemistry
M 1
D
  PDF
29 26278718
Burnside RD. 2015
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features. Biochemistry
M 1
D
30 25337734
Lorenzoni PJ 2014
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? Biochemistry
M 1
D
31 25203083
Yawn BP , JAMA 2014
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. Biochemistry
M 1
D
32 25190797
Zhou J 2014
How the ribosome hands the A-site tRNA to the P site during EF-G-catalyzed translocation. Biochemistry
E
  PDF
33 25417487
Odeh M. 2014
[Trisomy 18 and 13 and triploidy: the best way to diagnosis]. Biochemistry
M 1
D
34 24909993
Colussi TM , NATURE 2014
The structural basis of transfer RNA mimicry and conformational plasticity by a viral RNA. Biochemistry
M 1
D
  PDF
35 24805191
Makarona K 2014
Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells. Biochemistry
M 1
D
36 24881969
Frazier DM 2014
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Biochemistry
M 1
D
37 24881043
Chiabrando D 2014
Heme and erythropoieis: more than a structural role. Biochemistry
M 1
D
  PDF
38 24751931
Welty FK. 2014
Hypobetalipoproteinemia and abetalipoproteinemia. Biochemistry
E
  PDF
39 24891935
Husain K 2014
Alcohol-induced hypertension: Mechanism and prevention. Biochemistry
D
  PDF
40 23928856
Sun N 2014
Seamless correction of the sickle cell disease mutation of the HBB gene in human induced pluripotent stem cells using TALENs. Biochemistry
M 1
D
41 24503533
Lorenz JM 2014
Evolving medical and surgical management of infants with trisomy 18. Biochemistry
M 1
D
42 24417420
Tamura D 2014
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients. Biochemistry
M 1
D
  PDF
43 24664850
Chen XJ 2014
Cytoplasmic dynein: a key player in neurodegenerative and neurodevelopmental diseases. Biochemistry
M 1
D
44 24457989
Koilkonda RD 2014
Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial. Biochemistry
M 1
D
  PDF
45 24764756
Menck CF 2014
DNA repair diseases: What do they tell us about cancer and aging? Biochemistry
M 1
D
  PDF
46 24369379
Giordano C 2014
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Biochemistry
D
  PDF
47 24862262
TeSlaa T 2014
Techniques to monitor glycolysis. Biochemistry
E
  PDF
48 24011710
Chen H 2014
Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders. Biochemistry
M 1
D
  PDF
49 24290111
Oberhelman SS 2013
Maternal vitamin D supplementation to improve the vitamin D status of breast-fed infants: a randomized controlled trial. Biochemistry
M 1
D
  PDF
50 24248213
Briani C 2013
Cobalamin deficiency: clinical picture and radiological findings. Biochemistry
M 1
D
  PDF
51 23481039
Nyathi Y 2013
Co-translational targeting and translocation of proteins to the endoplasmic reticulum. Biochemistry
M 1
D
52 24198816
Davies EG. 2013
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Biochemistry
M 1
D
  PDF
53 24088041
Yang Y , NEJM 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. Biochemistry
M 1
D
  PDF
54 23701444
Heilmann S 2013
Evidence for a polygenic contribution to androgenetic alopecia. Biochemistry
M 1
D
55 24065789
Abdul-Ghani MA 2013
Novel hypothesis to explain why SGLT2 inhibitors inhibit only 30-50% of filtered glucose load in humans. Biochemistry
E
  PDF
56 24331359
Khurana DS 2013
Mitochondrial dysfunction in epilepsy. Biochemistry
M 1
D
57 23965608
Wei Q 2013
Electroconvulsive therapy and Klinefelter syndrome. Biochemistry
M 1
D
58 23849169
Vignard J 2013
Ionizing-radiation induced DNA double-strand breaks: a direct and indirect lighting up. Biochemistry
M 1
D
59 23765643
Benn P 2013
Non-invasive prenatal testing for aneuploidy: current status and future prospects. Biochemistry
M 1
D
60 23939605
Gauer RL. 2013
Early recognition and management of sepsis in adults: the first six hours. Biochemistry
M 1
D
61 23729742
Franker MA 2013
Microtubule-based transport - basic mechanisms, traffic rules and role in neurological pathogenesis. Biochemistry
M 1
D
62 23637309
Thein SL. 2013
The molecular basis of β-thalassemia. Biochemistry
E
  PDF
63 23486607
Ranganath LR , CPATH 2013
Recent advances in management of alkaptonuria (invited review; best practice article). Biochemistry
M 1
D
64 23506862
Mueckler M 2013
The SLC2 (GLUT) family of membrane transporters. Biochemistry
E
  PDF
65 23547591
Crownover BK 2013
Appropriate and safe use of diagnostic imaging. Biochemistry
M 1
D
66 22782502
Haussler MR 2013
Molecular mechanisms of vitamin D action. Biochemistry
M 1
D
67 23378587
Balakrishnan L 2013
Okazaki fragment metabolism. Biochemistry
E
  PDF
68 23301732
Stabler SP. , NEJM 2013
Clinical practice. Vitamin B12 deficiency. Biochemistry
M 1
D
69 23351378
Hwang J 2013
When a ribosome encounters a premature termination codon. Biochemistry
M 1
D
  PDF
70 23746253
Costa A 2013
Mechanisms for initiating cellular DNA replication. Biochemistry
M 1
D
  PDF
71 23101976
Cederbaum AI. 2012
Alcohol metabolism. Biochemistry
E
  PDF
72 22963910
Pisani A 2012
Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Biochemistry
M 1
D
73 23083810
Bidou L 2012
Sense from nonsense: therapies for premature stop codon diseases. Biochemistry
M 1
D
74 24159692
Naz F 2012
Lipid profile of women using oral contraceptive pills. Biochemistry
E
75 22683354
Mizuno N 2012
Structural studies of ciliary components. Biochemistry
D
76 22762317
Bischoff-Ferrari HA , NEJM 2012
A pooled analysis of vitamin D dose requirements for fracture prevention. Biochemistry
M 1
D
77 22709652
Briggs LE 2012
The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion. Biochemistry
M 1
D
  PDF
78 22696388
Alldred SK , COCHD 2012
Second trimester serum tests for Down's Syndrome screening. Biochemistry
M 1
D
  PDF
79 22617471
Leto D 2012
Regulation of glucose transport by insulin: traffic control of GLUT4. Biochemistry
D
80 22213537
Moreno-Sánchez R 2012
Phosphofructokinase type 1 kinetics, isoform expression, and gene polymorphisms in cancer cells. Biochemistry
E
81 22104258
Schabelman E 2012
Glucose before thiamine for Wernicke encephalopathy: a literature review. Biochemistry
M 1
D
82 22262756
Giblett ER 2012
Pillars article: Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. The Lancet. 1972. 300: 1067-1069. Biochemistry
D
83 21797891
Vatsalya V 2012
Pharmacodynamic effects of intravenous alcohol on hepatic and gonadal hormones: influence of age and sex. Biochemistry
M 1
D
  PDF
84 21960536
Stoller JK 2012
A review of α1-antitrypsin deficiency. Biochemistry
E
85 22122461
Kim YJ 2012
Overview of base excision repair biochemistry. Biochemistry
M 1
D
  PDF
86 22570975
Lin MH 2012
Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. Biochemistry
M 1
D
87 22969765
Sauer AV 2012
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. Biochemistry
D
  PDF
88 22654519
Gardner DS 2012
Clinical features and treatment of maturity onset diabetes of the young (MODY). Biochemistry
D
  PDF
89 22012810
Thanabalasingham G , BMJ 2011
Diagnosis and management of maturity onset diabetes of the young (MODY). Biochemistry
D
90 21671542
Langan RC 2011
Update on vitamin B12 deficiency. Biochemistry
M 1
D
91 21329706
Mladenov E 2011
Induction and repair of DNA double strand breaks: the increasing spectrum of non-homologous end joining pathways. Biochemistry
D
92 21818412
Hernandez-Verdun D. 2011
Assembly and disassembly of the nucleolus during the cell cycle. Biochemistry
M 1
D
  PDF
93 22043169
McLennan Y 2011
Fragile x syndrome. Biochemistry
E
  PDF
94 21569993
Carlson K 2011
Peripheral neuropathy with microtubule-targeting agents: occurrence and management approach. Biochemistry
E
95 21731100
Stojanovic V 2011
Role of beta-hydroxybutyric acid in diabetic ketoacidosis: a review. Biochemistry
E
  PDF
96 21285466
Hamel J. 2011
A review of acute cyanide poisoning with a treatment update. Biochemistry
M 1
D
97 21403791
Skeik N 2011
Kartagener syndrome. Biochemistry
M 1
D
  PDF
98 24753843
Witters G 2011
Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T's. Look at the hands. Biochemistry
M 1
D
  PDF
99 21078074
Arhakis A 2010
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report. Biochemistry
M 1
D
100 20861058
Quinlivan R 2010
McArdle disease: a clinical review. Biochemistry
M 1
D
101 20856683
Monti E 2010
Current and emerging treatments for the management of osteogenesis imperfecta. Biochemistry
M 1
D
  PDF
102 20822078
Gauer R. , AFP 2010
Hyperlipidemia treatment in children: the younger, the better. Biochemistry
M 1
D
  PDF
103 20687067
Webster D , COCHD 2010
Tyrosine supplementation for phenylketonuria. Biochemistry
M 1
D
104 20489136
Marsden D 2010
Newborn screening of lysosomal storage disorders. Biochemistry
M 1
D
105 20445456
Williams CA 2010
Clinical and genetic aspects of Angelman syndrome. Biochemistry
M 1
D
106 21977150
Plaiasu V 2010
Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. Biochemistry
M 1
D
  PDF
107 20031372
Hoffmann MH 2010
Nucleic acid-associated autoantigens: pathogenic involvement and therapeutic potential. Biochemistry
M 1
D
108 20142522
Testai FD 2010
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Biochemistry
M 1
D
109 19819175
Skovby F 2010
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Biochemistry
D
  PDF
110 19562503
Bailey CJ. 2009
Orotic aciduria and uridine monophosphate synthase: a reappraisal. Biochemistry
D
111 19322675
Dagli AI 2009
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. Biochemistry
D
  PDF
112 19743919
Ayi K 2009
Adenosine triphosphate depletion of erythrocytes simulates the phenotype associated with pyruvate kinase deficiency and confers protection against Plasmodium falciparum in vitro. Biochemistry
M 1
D
113 19773780
Hirokawa N 2009
Kinesin superfamily motor proteins and intracellular transport. Biochemistry
M 1
D
114 19741411
Thomas GW , JTACS 2009
Potential dysregulation of the pyruvate dehydrogenase complex by bacterial toxins and insulin. Biochemistry
M 1
D
115 19606528
Leigh MW 2009
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Biochemistry
M 1
D
  PDF
116 19472175
Bröer S. 2009
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. Biochemistry
M 1
D
  PDF
117 18639955
Lepik KJ 2009
Adverse drug events associated with the antidotes for methanol and ethylene glycol poisoning: a comparison of ethanol and fomepizole. Biochemistry
E
118 18972565
Symoens S 2009
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Biochemistry
E
119 18991752
Correia S 2008
Mechanisms of action of metformin in type 2 diabetes and associated complications: an overview. Biochemistry
M 1
D
120 18440001
Massiah N 2008
Twin trisomies-Edward and Patau syndromes. Biochemistry
E
121 18474937
Bártová E 2008
Histone modifications and nuclear architecture: a review. Biochemistry
E
  PDF
122 18498203
Mayo O. 2008
A century of Hardy-Weinberg equilibrium. Biochemistry
E
123 18344392
Jankovic J. 2008
Parkinson's disease: clinical features and diagnosis. Biochemistry
E
124 18425436
Braulke T 2008
Molecular analysis of the GlcNac-1-phosphotransferase. Biochemistry
M 1
D
125 18441864
Waisbren SE. 2008
Expanded newborn screening: information and resources for the family physician. Biochemistry
M 1
D
126 18046571
Sirri V 2008
Nucleolus: the fascinating nuclear body. Biochemistry
M 1
D
  PDF
127 19967017
Patel AB 2008
Hartnup disease. Biochemistry
M 1
D
128 18974538
Kale A 2008
Lesch-Nyhan syndrome: a case report. Biochemistry
M 1
D
129 17942742
Näsvall SJ 2007
The wobble hypothesis revisited: uridine-5-oxyacetic acid is critical for reading of G-ending codons. Biochemistry
E
  PDF
130 17443661
Scriver CR. 2007
The PAH gene, phenylketonuria, and a paradigm shift. Biochemistry
D
131 17639596
Pober BR 2007
Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Biochemistry
M 1
D
132 17698536
Zuccoli G 2007
Wernicke encephalopathy: MR findings at clinical presentation in twenty-six alcoholic and nonalcoholic patients. Biochemistry
D
  PDF
133 17644699
Wang AH 2007
Old world meets modern: a case report of scurvy. Biochemistry
M 1
D
134 17915576
Lucchiari S 2007
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency. Biochemistry
D
  PDF
135 17431076
Nanjiani A 2007
Patau syndrome. Biochemistry
M 1
D
136 17105897
Craig B. 2006
Atrioventricular septal defect: from fetus to adult. Biochemistry
M 1
D
  PDF
137 16988104
Aslinia F 2006
Megaloblastic anemia and other causes of macrocytosis. Biochemistry
E
  PDF
138 16940490
Casanova MS 2006
Kartagener syndrome. Biochemistry
M 1
D
139 16894067
Brody AL 2006
Cigarette smoking saturates brain alpha 4 beta 2 nicotinic acetylcholine receptors. Biochemistry
E
  PDF
140 16770930
Raghuveer TS , AFP 2006
Inborn errors of metabolism in infancy and early childhood: an update. Biochemistry
M 1
D
141 16602092
Deodato F 2006
Methylmalonic and propionic aciduria. Biochemistry
M 1
D
142 16506711
Dewar M 2006
Chronic obstructive pulmonary disease: diagnostic considerations. Biochemistry
M 1
D
143 17065101
van Kuilenburg AB 2006
Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency. Biochemistry
E
144 16403014
Hernández-Romero D 2006
A tyrosinase with an abnormally high tyrosine hydroxylase/dopa oxidase ratio. Biochemistry
E
145 16213112
Kozak M. 2005
Regulation of translation via mRNA structure in prokaryotes and eukaryotes. Biochemistry
M 1
D
146 16235283
Huiming Y , COCHD 2005
Vitamin A for treating measles in children. Biochemistry
M 1
D
  PDF
147 16176880
Nyhan WL. 2005
Disorders of purine and pyrimidine metabolism. Biochemistry
D
148 15950160
Lewis M. 2005
The lac repressor. Biochemistry
M 1
D
149 15667315
Bröer S 2005
Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. Biochemistry
M 1
D
150 15637349
Kintscher U 2005
PPARgamma-mediated insulin sensitization: the importance of fat versus muscle. Biochemistry
D
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