Profil bibliographique

Engi̇n Köse

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

130Publications signalées

748Citations signalées

2Affiliations récentes

Les institutions déclarées

Les domaines associés

Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchMitochondrial Function and PathologyDiet and metabolism studiesFolate and B Vitamins Research

Les publications récentes

Accès ouvert 2026 article OpenAlex

Real-world clinical use of large neutral amino acids in phenylketonuria: a nationwide survey from Turkey under reimbursement constraints

Engi̇n Köse, Tanyel Zübarioğlu, Aynur Küçükçongar Yavaş, Özlem Ünal et autres

tr (code pays fourni par la source)

0 citations Orphanet Journal of Rare Diseases

2026 article OpenAlex

Continuous Renal Replacement Therapy for Acute Decompensation in Inborn Errors of Metabolism: Single-Center, Pediatric Cohort, 2014–2025

Merve Güneş, Engi̇n Köse, Eda Eyduran, Doğan Kaymaz et autres

tr (code pays fourni par la source)

0 citations Pediatric Critical Care Medicine

2026 article OpenAlex

Prescribing patterns of vitamin and cofactor therapies in genetically confirmed primary mitochondrial diseases

Merve Güneş, Merve Koç Yekedüz, Engi̇n Köse, İlknur Sürücü Kara et autres

tr (code pays fourni par la source)

0 citations Molecular Genetics and Metabolism

Accès ouvert 2026 supplementary-materials OpenAlex

Supplemental Material for: Case Report Renal Findings in GM1 Gangliosidosis: Clinical, Histopathologic, and Ultrastructural Evidence from a Case Report with Literature Review

figshare admin karger, Ümmühan Öncül, Engi̇n Köse, Genco Gencay et autres

ch (code pays fourni par la source)

0 citations Figshare

Accès ouvert 2026 supplementary-materials OpenAlex

Supplemental Material for: Case Report Renal Findings in GM1 Gangliosidosis: Clinical, Histopathologic, and Ultrastructural Evidence from a Case Report with Literature Review

figshare admin karger, Ümmühan Öncül, Engi̇n Köse, Genco Gencay et autres

ch (code pays fourni par la source)

0 citations Figshare

Accès ouvert 2026 article OpenAlex

Optic Glioma in a Child With Alpha‐Mannosidosis: A Previously Unreported Co‐occurrence

Vafa Maharramova, Sonay İncesoy Özdemir, Cem Çanakçı, Melda Berber Hamamcı et autres

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0 citations Pediatric Blood & Cancer

2026 article OpenAlex

A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE -Related Encephalopathy

Mert Altıntaş, Miraç Yıldırım, Ömer Bektaş, Eda Eyduran et autres

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0 citations Journal of Child Neurology

2026 paratext OpenAlex

Titre indisponible

Merve Koç Yekedüz, Kübra Çilesiz, İlknur Sürücü Kara, Aslı İnci et autres

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0 citations Klinische Pädiatrie

Accès ouvert 2026 article OpenAlex

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review

Şule Altıner, Ezgi Gökpınar İli, Ahmet Karer Yurtdaş, Okan Kurtçu et autres

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0 citations Journal of Human Genetics

Accès ouvert 2025 article OpenAlex

Structure, Biochemical Role and Importance of Carboxylase Class Enzymes in Metabolism

Naci Polat, Engi̇n Köse

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0 citations Uludağ Üniversitesi Tıp Fakültesi Dergisi

Accès ouvert 2025 article OpenAlex

Two Siblings with LRPPRC Mutation: Mitochondrial Complex IV Deficiency: Case Report

Merve Güneş, Duygu Duman, Emine Kübra Şen, Miraç Yıldırım et autres

tr (code pays fourni par la source)

0 citations Molecular Syndromology

Accès ouvert 2025 erratum OpenAlex

Correction to: Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes

Ayşe Akyüz, İlyas Okur, Leyla Tümer, Fatma Tuba Eminoğlu et autres

tr (code pays fourni par la source)

0 citations European Journal of Pediatrics

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