Yazar: Engin Köse

Hekimler için-Kolestaz ve metabolik hastalıklar

bile-acid-analysis-in-human-disorders-of-bile-acid-biosynthesisİndir
cholestasis-in-infancyİndir
inborn-errors-of-bile-acid-metabolismİndir
jaundice-revisited-recent-advances-in-the-diagnosis-and-treatment-of-inherited-cholestatic-liver-diseasesİndir
molecular-mechanisms-in-pediatric-cholestasisİndir
neonatal-cholestasis-a-primer-of-selected-etiologiesİndir
neonatal-cholestasis-a-pandoras-boxİndir
by Kategoriler: hekimler için, Hekimleri çin

Hekimler için-Kobalamin metabolizması defektleri

disorders-of-intracellular-cobalamin-metabolism-genereviewsc2ae-ncbi-bookshelfİndir
guidelines-for-diagnosis-and-management-of-the-cobalamin-related-remethylation-disorders-cblc-cbld-cble-cblf-cblg-cblj-and-mthfr-deficiencyİndir
immunodeficiency-and-inborn-disorders-of-vitamin-b12-and-folate-metabolismİndir
phenotype-treatment-practice-and-outcome-in-the-cobalamin-dependent-remethylation-disorders-and-mthfr-deficiency-data-from-the-e-hod-registryİndir
the-clinical-presentation-of-cobalamin-related-disorders-from-acquired-deficiencies-to-inborn-errors-of-absorption-and-intracellular-pathwaysİndir
by Kategoriler: hekimler için, Hekimleri çin

Hekimler için-Yağ asidi oksidasyon defektleri

acute-illness-protocol-for-fatty-acid-oxidation-and-carnitine-disorders-2İndir
carnitine-transport-and-fatty-acid-oxidationİndir
clinical-manifestations-and-management-of-fatty-acid-oxidation-disordersİndir
defects-of-fatty-acid-oxidation-and-the-carnitine-shuttle-systemİndir
disorders-of-mitochondrial-longchain-fattyİndir
evaluation-of-earlier-versus-later-dietary-management-in-long-chain-3-hydroxyacylcoa-dehydrogenase-or-mitochondrial-trifunctional-protein-deficiency-a-systematic-reviewİndir
fatty-acid-beta-oxidation-disorders-brief-reviewİndir
fatty-acid-oxidation-disordersİndir
management-and-diagnosis-of-mitochondrial-fatty-acid-oxidation-disorders-focus-on-very-long-chain-acyl-coa-dehydrogenase-deficiencyİndir
medium-chain-acyl-coa-dehydrogenase-deficiencyİndir
short-chain-acyl-coa-dehydrogenase-deficiency-from-gene-to-cell-pathology-and-possible-disease-mechanismsİndir
by Kategoriler: hekimler için, Hekimleri çin

Hekimler için-Homosistinüri

betaine-anhydrous-in-homocystinuria-results-from-the-roch-registryİndir
classical-homocystinuria-from-cystathionine-beta-synthase-deficiency-to-novel-enzyme-therapiesİndir
consensus-recommendations-for-the-diagnosis-treatment-and-follow-up-of-inherited-methylation-disordersİndir
guidelines-for-the-diagnosis-and-management-of-cystathionine-beta-synthase-deficiencyİndir
homocystinuria-caused-by-cystathionine-betasynthase-deficiencyİndir
potential-pharmacological-chaperones-for-cystathionine-beta-synthase-deficient-homocystinuriaİndir
by Kategoriler: hekimler için, Hekimleri çin

Hekimler için-Niemann Pick Tip C

recommendations-for-the-detection-and-diagnosis-of-niemann-pick-disease-type-cİndir
disease-characteristics-prognosis-and-miglustat-treatment-effects-on-disease-progression-in-patients-with-niemann-pick-disease-type-c-an-international-multicenter-retrospective-chart-revİndir
evaluation-of-different-suspicion-indices-in-identifying-patients-with-niemann-pick-disease-type-c-in-clinical-practice-a-post-hoc-analysis-of-a-retrospective-chart-reviewİndir
expanded-access-with-intravenous-hydroxypropyl-ceb2-cyclodextrin-to-treat-children-and-young-adults-with-niemannpick-disease-type-c1-a-case-report-analysisİndir
niemann-pick-disease-type-cİndir
by Kategoriler: hekimler için, Hekimleri çin

Hekimler için-CTX serebrotendinöz ksantomatozis

cerebrotendinous-xanthomatosisİndir
clinical-and-genetic-characteristics-of-chinese-patients-with-cerebrotendinous-xanthomatosisİndir
clinical-and-molecular-genetic-features-of-cerebrotendinous-xanthomatosis-in-taiwan-report-of-a-novel-cyp27a1-mutation-and-literature-reviewİndir
epidemiology-diagnosis-and-treatment-of-cerebrotendinousİndir
the-safety-and-effectiveness-of-chenodeoxycholic-acid-treatment-in-patients-with-cerebrotendinous-xanthomatosis-two-retrospective-cohort-studiesİndir
treatment-with-chenodeoxycholic-acid-in-cerebrotendinous-xanthomatosis-clinical-neurophysiological-and-quantitative-brain-structural-outcomesİndir

by Kategoriler: hekimler için, Hekimleri çin