Search filters

List of works by Fatma Derya Bulut

A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI.

scientific article

An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency

scientific article published on 13 January 2017

Can untreated PKU patients escape from intellectual disability? A systematic review

scientific article published on 29 August 2018

Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies

scientific article published on 01 January 2018

Congenital erythropoietic porphyria with erythrodontia: A case report

scientific article published on 27 February 2019

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.

scientific article published on 14 April 2018

Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations

scientific article

Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose

scientific article published on 01 July 2017

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency

scientific article published on 20 November 2017

Paulina is supported by:

About Paulina

Help