EISSN 2757-6256

SCOPUS CITESCORE: 1.5 TAP IS INDEXED IN PUBMED

Turkish Archives of Pediatrics

59 134 2024

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POPULAR CONTENTS

Vaccine hesitancy - vaccine refusal

By: Gur, Emel

The Turkish Neonatal Society proposal for the management of COVID-19 in the neonatal intensive care unit

By: Erdeve, Omer; Cetinkaya, Merih; Bas, Ahmet Yagmur; et al.

Behcet's disease in children: single-center experience

By: Cirkinoglu, Murat Soner; Demir, Selcan; Bilginer, Yelda; et al.

Evaluation of foreign body aspiration cases in our pediatric intensive care unit: Single-center experience

By: Aslan, Nagehan; Yildizdas, Dincer; Ozden, Onder; et al.

A case of Type 1 Dent disease presenting with isolated persistent proteinuria

By: Gungor, Tulin; Eroglu, Fehime Kara; Yazilitas, Fatma; et al.

Long-term outcome of autism spectrum disorder

By: Posar, Annio; Visconti, Paola

HIGHLY CITED ARTICLES

A recently explored aspect of the iceberg named COVID-19: multisystem inflammatory syndrome in children (MIS-C)

By: Haslak, F; Yildiz, M; Adrovic, A; et al.

Coronavirus infections in childhood and vaccine studies

By: Aygun, D; Onal, P; Apaydin, G, et al.

Multisystemic inflammatory syndrome in children associated with COVID-19: a single center experience in Turkey

By: Basar, EZ; Sonmez, HE; Oncel, S; et al.

Associations between parenting styles and excessive screen usage in preschool children

By: Caylan, N; Yalcin, SS; Nergiz, ME; et al.

Comparison of nasal airway obstruction with sonoelastography and nose obstruction symptom evaluation scores in children with allergic rhinitis

By: Filiz, S; Ozkan, MB; Selcuk, OT; et al.

Call for Emergency Action to Limit Global Temperature Increases, Restore Biodiversity, and Protect Health

By: Atwoli, L; Baqui, AH; Benfield, T; et al.

Birth Weight Reference Percentiles by Gestational Age for Turkish Twin Neonates

By: Imamoglu, EY; Hayran, M; Kayiran, SM, et al.

The Ideal Timing of Bedside Surgical Ligation of Patent Ductus Arteriosus in Premature Babies Less Than 30 Gestational Weeks

By: Zubarioglu, AU; Yildirim, O; Zeybek, C, et al.

How often do neurological disorders lead to dizziness in childhood?

By: Karatoprak, E; Sozen, G and Yilmaz, K

The impact of the COVID-19 pandemic on the assessment of autism spectrum disorder

By: Posar, A; Visconti, P and Giuberti, V

Case Report

Isolated sulfite oxidase deficiency

Nesrin Şenbil ¹ , Mahya Sultan Tosun ² , Fatih Süheyl Ezgü ³ , Yahya Kemal Yavuz Gürer¹

Author Affiliation(s)

1.

Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Nörolojisi Bölümü

2.

Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi

3.

Gazi Üniversitesi Tıp Fakültesi, Pediatrik Metabolizma Bölümü

Turk Arch Pediatr 2005; 40: 105-108

Keywords : blood uric acid, intractable seizure, sulfite oxidase

Read: 663 Downloads: 379 Published: 17 December 2020

Volume 40, Issue 2, June 2005

Previous Article

Isolated sulfite oxidase deficiency is a very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids. A 4 month-old girl with intractable seizures and feeding difficulty diagnosed as isolated sulfite oxidase deficiency is presented.

İzole sülfit oksidaz eksikliği

İzole sülfit oksidaz eksikliği nadir görülen, otozomal çekinik (resesif) geçişli, sülfür içeren amino asit metabolizması bozukluğudur. Dirençli nöbetler ve beslenme güçlüğü yakınması ile başvuran ve izole sülfit oksidaz eksikliği tanısı alan bir olgu sunulmuştur.

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