Kategori: hekimler için

Hekimler için- Fabry hastalığı

consensus-recommendations-for-diagnosis-management-and-treatment-of-fabry-disease-in-paediatric-patientsİndir
anderson-fabry-disease-a-rare-disease-that-mimics-common-cardiac-neurological-renal-and-other-disorders-approach-for-the-differential-diagnosis-and-follow-upİndir
ert-in-fabryİndir
current-and-investigational-therapeutics-for-fabry-diseaseİndir
diagnosis-and-screening-of-patients-with-fabry-diseaseİndir
migalastat-a-review-in-fabry-diseaseİndir
hot-topics-in-fabry-diseaseİndir
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Hekimler için-Dislipidemiler

familial-hypercholesterolemiaİndir
familial-lipoprotein-lipase-deficiencyİndir
abetalipoproteinemiaİndir
approach-to-hypertriglyceridemia-in-the-pediatric-populationİndir
clinical-practice-recommendations-for-pediatric-dyslipidemiaİndir
inherited-metabolic-disorders-and-dyslipidaemiaİndir
management-of-familial-hypercholesterolaemia-in-childhoodİndir
management-of-hypertriglyceridemia-common-questions-and-answersİndir

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Hekimler için- Fenilketonüri (PKU)

phenylalanine-hydroxylase-deficiencyİndir
consensus-guideline-for-the-diagnosis-and-treatment-of-tetrahydrobiopterin-bh4-deficienciesİndir
the-complete-european-guidelines-on-pkuİndir
the-phenylketonuria-patient-a-recent-dietetic-therapeutic-approachİndir
pku-dietary-handbook-to-accompany-pku-guidelines-1İndir
treatment-options-and-dietary-supplements-for-patients-with-phenylketonuriaİndir
phenylketonuria-current-treatments-and-future-developmentsİndir
international-best-practice-for-the-evaluation-of-responsiveness-to-sapropterin-dihydrochloride-in-patients-with-phenylketonuriaİndir
the-genetic-landscape-and-epidemiology-of-phenylketonuriaİndir

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Hekimler için-Perioperatif metabolik hastalıklara yaklaşım

a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiencyİndir
anesthetic-management-of-a-patient-with-methylmalonic-acidemia-a-case-reportİndir
anesthetic-management-of-patients-with-inborn-errors-of-metabolismİndir
fabry-disease-and-general-anesthesia-a-case-report-and-literature-reviewİndir
management-of-children-with-metabolic-disease-undergoing-surgeryprocedureİndir
metabolic-disorders-and-anesthesiaİndir
perioperative-care-of-children-with-inherited-metabolic-disordersİndir
perioperative-management-of-a-child-with-glucose-transporter-type-1-deficiency-syndrome-a-case-reportİndir
perioperative-management-of-children-with-urea-cycle-disordersİndir
anesthetic-management-of-a-child-with-propionic-acidemia-complicated-by-bacteremia-and-severe-acute-respiratory-syndrome-coronavirus-2-1İndir
anesthetic-management-for-pediatric-liver-transplantation-in-a-patient-with-propionic-acidemia-a-case-reportİndir
acute-hepatic-porphyria-and-anaesthesia-a-practical-approach-to-the-prevention-and-management-of-acute-neurovisceral-attacksİndir

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Hekimler için-Üre siklus defektleri

acute-illness-protocol-for-urea-cycle-disordersİndir
argininosuccinic-aciduria-recent-pathophysiological-insights-and-therapeutic-prospectsİndir
defects-of-the-urea-cycle-reviewİndir
efficacy-and-safety-of-sodium-benzoate-in-the-management-of-hyperammonemia-in-decompensated-chronic-liver-disease-of-the-childhooda-double-blind-randomized-controlled-trialİndir
hyperammonaemia-and-iemİndir
hyperornithinemia-hyperammonemia-homocitrullinuria-syndrome-in-pregnancy-considerations-for-management-and-review-of-the-literatureİndir
inborn-errors-of-metabolism-with-hyperammonemiaİndir
revision-ucd-guidelineİndir
suggested-guidelines-for-the-diagnosis-and-management-of-urea-cycle-disorders-2012İndir
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Hekimler için-Organik asidüriler

classical-organic-acidurias-diagnosis-and-pathogenesisİndir
dietary-practices-in-propionic-acidemia-a-european-surveyİndir
effect-of-carglumic-acid-1İndir
neurological-manifestations-of-organic-aciduriasİndir
organic-acidurias-an-updated-reviewİndir
propionic-acidemia-acute-illness-protocolİndir
methylmalonic-acidemia-acute-illness-protocolİndir
isovaleric-acidemia-_acute-illness-protocolİndir
maple-syrup-urine-disease-msudİndir
pathophysiology-of-propionic-and-methylmalonic-acidemias.-part-1-complicationsİndir
pathophysiology-of-propionic-and-methylmalonic-acidemias.-part-2-treatment-strategiesİndir
propionic-acidemia-reviewİndir
systematic-literature-review-and-meta-analysis-on-the-epidemiology-of-propionic-acidemiaİndir
systematic-literature-review-and-metaanalysis-on-the-epidemiology-of-methylmalonic-acidemia-mma-with-a-focus-on-mma-caused-by-methylmalonylcoa-mutase-mut-deficiencyİndir
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Hekimler için-Metabolik acillere yaklaşım

inborn-errors-of-metabolism-in-the-emergency-department-undiagnosed-and-management-of-the-knownİndir
ammonia-lactate-and-blood-gases-e-a-users-guide-1İndir
acute-illness-protocol-for-fatty-acid-oxidation-and-carnitine-disordersİndir
acute-illness-protocol-for-urea-cycle-disordersİndir
acute-pediatric-hyperammonemia-current-diagnosis-and-management-strategies-1İndir
acute-illness-protocol-for-organic-acidemiasİndir
acute-presentation-and-management-of-the-encephalopathic-child-with-an-undiagnosed-inborn-error-of-metabolismİndir
acute-presentations-of-inherited-metabolic-disorders-investigation-and-initial-managementİndir
bye-bye-benzoate-what-next-for-hyperammonemia-in-liver-diseaseİndir
effect-of-carglumic-acidİndir
hyperammonaemia-and-iemİndir
hyperammonaemia-in-classic-organic-acidaemias-a-review-of-the-literature-and-two-case-historiesİndir
hyperammonemia-the-last-indication-of-high-volume-hemodiafiltration-in-adult-and-children-a-structured-reviewİndir
inborn-errors-of-metabolism-with-hyperammonemiaİndir
intravenous-and-oral-hyperammonemia-management-1İndir
management-of-35-critically-ill-hyperammonemic-neonates-role-of-early-administration-of-metabolite-scavengers-and-continuous-hemodialysisİndir
metabolic-nutritional-iatrogenic-and-artifactual-sources-of-urinary-organic-acids-a-comprehensive-tableİndir
organic-acidemias-and-defects-of-pyruvate-and-keton-body-metabolismİndir
organic-acidurias-major-gaps-new-challenges-and-a-yet-unfulfilled-promiseİndir
understanding-acute-metabolic-decompensation-in-propionic-and-methylmalonic-acidemias-a-deep-metabolic-phenotyping-approachİndir
established-and-emerging-treatments-for-patients-with-inborn-errors-of-metabolismİndir
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Hekimler için-Tandem MS ve idrar organik asit yorumlama

age-specific-cut-off-values-of-amino-acids-and-acylcarnitines-for-diagnosis-of-inborn-errors-of-metabolism-using-liquid-chromatography-tandem-mass-spectrometryİndir
metabolic-nutritional-iatrogenic-and-artifactual-sources-of-urinary-organic-acids-a-comprehensive-table-1İndir
dogumsal-metabolizma-bozukluklarina-yaklasimİndir
Urine Organic Acid Testing in the Clinical Laboratory The Pastİndir

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