Biochemistry
- Peroxisome

Wanders RJ, 2017

1/10/2017

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

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

Overview of current surgical strategies for aortic disease in patients with Marfan syndrome.

Miyahara S

Okita Y.

Biochemistry
- Elastin

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

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.

Biochemistry
- Lysosome

Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization.

Biochemistry
- Protein Folding and Degradation

Management of Sickle Cell Disease: Recommendations from the 2014 Expert Panel Report.

Yawn BP

John-Sowah J.

Biochemistry
- Type of DNA Mutations

Clinical significance of the integrin α6β4 in human malignancies.

Stewart RL

O'Connor KL.

Biochemistry
- Cell Surface Proteins

Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

Biochemistry
- Chromosomal Diseases

Flores-Ramírez F, 2015

Evaluation of Short and Tall Stature in Children.

Barstow C

Rerucha C.

Biochemistry
- Elastin

Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.

Biochemistry
- Chromosomal Diseases

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

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.

Burnside RD.

Biochemistry
- Chromosomal Diseases

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Biochemistry
- Genetic Principles

Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members.

Biochemistry
- Type of DNA Mutations

How the ribosome hands the A-site tRNA to the P site during EF-G-catalyzed translocation.

Biochemistry
- Protein Synthesis

[Trisomy 18 and 13 and triploidy: the best way to diagnosis].

Odeh M.

Biochemistry
- Chromosomal Diseases

The structural basis of transfer RNA mimicry and conformational plasticity by a viral RNA.

Biochemistry
- tRNA

Colussi TM, NATURE 2014

Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells.

Biochemistry
- HMP Shunt

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

Biochemistry
- Amino Acid Catabolism

Heme and erythropoieis: more than a structural role.

Chiabrando D

Mercurio S

Tolosano E.

Biochemistry
- Heme Metabolism

Alcohol-induced hypertension: Mechanism and prevention.

Husain K

Ansari RA

Ferder L.

Biochemistry
- Ethanol Metabolism

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

Cytoplasmic dynein: a key player in neurodegenerative and neurodevelopmental diseases.

Biochemistry
- Microtubules

Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.

Biochemistry
- DNA Repair

Evolving medical and surgical management of infants with trisomy 18.

Lorenz JM

Hardart GE.

Biochemistry
- Chromosomal Diseases

Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial.

Biochemistry
- Modes of Inheritance

DNA repair diseases: What do they tell us about cancer and aging?

Menck CF

Munford V.

Biochemistry
- DNA Repair

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Biochemistry
- Mitochondria

Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders.

Biochemistry
- Lysosome

Maternal vitamin D supplementation to improve the vitamin D status of breast-fed infants: a randomized controlled trial.

Biochemistry
- Fat Soluble Vitamins

Cobalamin deficiency: clinical picture and radiological findings.

Biochemistry
- Water Soluble Vitamins

Co-translational targeting and translocation of proteins to the endoplasmic reticulum.

Nyathi Y

Wilkinson BM

Pool MR.

Biochemistry
- Protein Synthesis

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.

Davies EG.

Biochemistry
- Chromosomal Diseases

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Biochemistry
- Type of DNA Mutations

Evidence for a polygenic contribution to androgenetic alopecia.

Biochemistry
- Genetic Principles

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

Ionizing-radiation induced DNA double-strand breaks: a direct and indirect lighting up.

Vignard J

Mirey G

Salles B.

Biochemistry
- DNA Repair

Electroconvulsive therapy and Klinefelter syndrome.

Biochemistry
- Karyotyping

Mitochondrial dysfunction in epilepsy.

Biochemistry
- Genetic Principles

Early recognition and management of sepsis in adults: the first six hours.

Gauer RL.

Biochemistry
- Pyruvate Dehydrogenase Complex

Non-invasive prenatal testing for aneuploidy: current status and future prospects.

Benn P

Cuckle H

Pergament E.

Biochemistry
- Chromosomal Diseases

Microtubule-based transport - basic mechanisms, traffic rules and role in neurological pathogenesis.

Franker MA

Hoogenraad CC.

Biochemistry
- Microtubules

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

The molecular basis of β-thalassemia.

Thein SL.

Biochemistry
- RNA Processing

The SLC2 (GLUT) family of membrane transporters.

Mueckler M

Thorens B.

Biochemistry
- Glucose Transport

Appropriate and safe use of diagnostic imaging.

Crownover BK

Bepko JL.

Biochemistry
- DNA Repair

Molecular mechanisms of vitamin D action.

Biochemistry
- Fat Soluble Vitamins

Clinical practice. Vitamin B12 deficiency.

Stabler SP.

Biochemistry
- Water Soluble Vitamins

Stabler SP., NEJM 2013

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