Yayınlar & Eserler

Yayın Ağı
Makaleler 11
Tümü (11)
SCI-E, SSCI, AHCI (11)
SCI-E, SSCI, AHCI, ESCI (11)
Scopus (11)
TRDizin (1)

1. A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics

BALCI M. C., KOR D., YILDIZ Y., KARACA M., BULUT F. D., Kahraman A. B., et al.
ORPHANET JOURNAL OF RARE DISEASES , cilt.20, sa.1, 2025 (SCI-Expanded, Scopus) identifier identifier

2. Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

KAHRAMAN A. B., ÇIKI K., POŞUL B., Guvercin M., YILDIZ Y., DURSUN A., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.67, sa.2, ss.175-185, 2025 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier

3. Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort

AKAR H. T., KAHRAMAN A. B., YILDIZ Y., Baran B., ÇIKI K., COŞKUN T., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , sa.4, ss.399-405, 2025 (SCI-Expanded, Scopus) identifier identifier

4. High prevalence of low bone mineral density in young adults with phenylketonuria

ÇIKI K., KAHRAMAN A. B., AKAR H. T., YILDIZ Y., DURSUN A., Tokatli A., et al.
POSTGRADUATE MEDICINE , sa.1, ss.86-92, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

5. Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

KÖSE E., KASAPKARA Ç. S., İNCİ A., YILDIZ Y., Sürücü Kara İ., Kahraman A. B., et al.
European Journal of Medical Genetics , cilt.68, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

6. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

ÇIKI K., YILDIZ Y., KAHRAMAN A. B., ÖZGÜL R. K., COŞKUN T., DURSUN A., et al.
Molecular Genetics and Metabolism , cilt.140, sa.3, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

7. COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

KAHRAMAN A. B., YILDIZ Y., ÇIKI K., Erdal I., AKAR H. T., DURSUN A., et al.
Molecular Genetics and Metabolism , cilt.139, sa.2, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

8. Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

KAHRAMAN A. B., YILDIZ Y., GÖKMEN ÖZEL H., KADAYIFÇILAR S., SİVRİ S.
Neuromuscular Disorders , cilt.33, sa.4, ss.315-318, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

9. Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome

KAHRAMAN A. B., Karakaya B., YILDIZ Y., KAMACI S., KESİCİ S., ŞİMŞEK KİPER P. Ö., et al.
Neuromuscular Disorders , cilt.32, sa.11-12, ss.931-934, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

10. Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience

KAHRAMAN A. B., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.8, ss.2367-2375, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

11. Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

KAHRAMAN A. B., AKAR H. T., Lafci N. G., YILDIZ Y., Tokatli A.
MOLECULAR SYNDROMOLOGY , cilt.13, sa.3, ss.193-199, 2022 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier
Metrikler

Yayın

11

Yayın (WoS)

11

Yayın (Scopus)

11

Atıf (Scopus)

7

H-İndeks (Scopus)

2

Açık Erişim

1