Претрага

Резултати

Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals [2023]

Badnjarevic, Ivana ; Moyer, Kelly; Bertoldi, Mariarita; Opladen, Thomas; Flint, Lisa

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency [2024]

Julia-Palacios, Natalia Alexandra; ...; Stevanovic, Galina B; ...; (broj, koautora 22)

TMEM70 deficiency: long-term outcome of 48 patients (vol 38, pg 417, 2015) [2015]

Magner, Martin; ...; Stojanovic, Vesna D ; ...; (broj, koautora 27)

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry [2019]

Molema, Femke; ...; Đorđević, Maja S. ; Sarajlija, Adrijan ; ...; (broj koautora 68)

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases [2019]

Posset, Roland; ...; Sarajlija, Adrijan ; ...; (broj koautora 70)

Genotype-phenotype analysis of Serbian p.l48s pku patients [2012]

Stojiljković, Maja ; Đorđević, M.; Karan-Đurašević, Teodora ; Tošić, Nataša ; Sarajlija, A. ; Zukić, Branka ; Radmilović, M. ; Spasovski, Vesna ; Kotur, Nikola ; Pavlović, Sonja

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency [2025]

Sigatullina-Bondarenko, Mariya; Kuseyri Hübschmann, Oya; Badnjarevic, Ivana ; ...; Stevanovic, Galina B; ...; (broj, koautora 19)

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism [2023]

Yılmaz Yıldız; Oya Kuseyri Hübschmann; Ayça Akgöz Karaosmanoğlu; Filippo Manti; Meryem Karaca; Ida Vanessa; ... et al; Kavečan, Ivana ; (broj, koautora 27)

NOVEL MITOCHONDRIAL DNA DELETION IN PATIENT WITH DISTINCT PRESENTATION OF PEARSON SYNDROME [2010]

Kecman, Bozica; Mayr, Johannes A; Djordjevic, Maja S; Sarajlija, Adrijan ; Stajic, Natasa

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C [2026]

Hiwot, Tarekegn; ...; Kresojevic, Nikola ; ...; (broj, koautora 34)