Kategori: hekimler için

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

Hekimler için-Kardiyomiyopati ve metabolik hastalıklar

lysosomal-storage-disorders-affecting-the-heart-a-review-1İndir
barth-syndrome-connecting-cardiolipin-to-cardiomyopathy-1İndir
cardiomyopathies-in-children-mitochondrial-and-storage-disease-1İndir
cardiomyopathy-in-children-classification-and-diagnosis-1İndir
epidemiology-and-clinical-aspects-of-genetic-cardiomyopathies-1İndir
pediatric-mitochondrial-diseases-and-the-heart-1İndir

by Kategoriler: hekimler için, Hekimleri çin

Hekimler için-Gaucher hastalığı

glucocerebrosidaseİndir
gaucher-diseaseİndir
endocrine-and-metabolic-disorders-in-patients-with-gaucher-disease-type-1-a-reviewİndir
current-and-emerging-pharmacotherapy-for-gaucher-diseaseİndir
pharmacological-treatment-of-pediatric-gaucher-diseaseİndir
imaging-of-non-neuronopathic-gaucher-disease-recent-advances-in-quantitative-imaging-and-comprehensive-assessment-of-disease-involvementİndir

by Kategoriler: hekimler için, Hekimleri çin

Hekimler için-Tirozinemi tip1

tyrosinemia-type-1İndir
tyrosinemia-type-1-and-symptoms-of-adhd-biochemical-mechanisms-and-implications-for-treatment-and-prognosisİndir
serum-amino-acid-profiling-in-patients-with-alkaptonuria-before-and-after-treatment-with-nitisinoneİndir
nitisinon-adverse-effectİndir
hereditary-tyrosinemia-type-1İndir
evaluation-of-presymptomatic-nitisinone-treatmentİndir
diagnosis-and-treatment-of-tyrosinemia-type-iİndir
clinical-utility-of-nitisinone-for-the-treatment-of-hereditary-tyrosinemia-type-1İndir

by Kategoriler: hekimler için, Hekimleri çin