Kategori: hekimler için

Hekimler için-Hipofosfatazya

differential-diagnosis-of-perinatal-hypophosphatasia-radiologic-perspectivesİndir
edian-nerve-stiffness-measurement-by-shear-wave-elastography-a-potential-sonographic-method-in-the-diagnosis-of-carpal-tunnel-syndromeİndir
frequency-and-age-at-occurrence-of-clinical-manifestations-of-disease-in-patients-with-hypophosphatasia-a-systematic-literature-reviewİndir
hypophosphatasia-from-diagnosis-to-treatmentİndir
hypophosphatasia-natures-window-on-alkaline-phosphatase-function-in-humansİndir
hypophosphatasiaİndir
monitoring-guidance-for-patients-with-hypophosphatasia-treated-with-asfotase-alfaİndir
profile-of-asfotase-alfa-in-the-treatment-of-hypophosphatasia-design-development-and-place-in-therapyİndir
update-on-the-management-of-hypophosphatasiaİndir

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Hekimler için-Lizozomal asit lipaz eksikliği (Wolman Hastalığı)

cholesteryl-ester-storage-disease-of-clinical-and-genetic-characterisation-a-case-report-and-review-of-literatureİndir
lysosomal-acid-lipase-deficiency-e28093-early-diagnosis-is-the-keyİndir
lysosomal-acid-lipase-deficiency-a-form-of-nonobese-fatty-liver-diseaseİndir
lysosomal-acid-lipase-deficiency-therapeutic-options-2İndir
lysosomal-acid-lipase-deficiency-therapeutic-optionsİndir
lysosomal-acid-lipase-in-lipid-metabolism-and-beyondİndir
persistent-dyslipidemia-in-treatment-of-lysosomal-acid-lipase-deficiencyİndir
wolmans-disease-and-cholesteryl-ester-storage-disorderİndir
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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
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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
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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
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