Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency von Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

Volltext

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS von Korkmaz, Emine, Lipska-Ziętkiewicz, Beata S, Boyer, Olivia, Gribouval, Olivier, Fourrage, Cecile, Tabatabaei, Mansoureh, Schnaidt, Sven, Gucer, Safak, Kaymaz, Figen, Arici, Mustafa, Dinckan, Ayhan, Mir, Sevgi, Bayazit, Aysun K, Emre, Sevinc, Balat, Ayse, Rees, Lesley, Shroff, Rukshana, Bergmann, Carsten, Mourani, Chebl, Antignac, Corinne, Ozaltin, Fatih, Schaefer, Franz

Volltext

Different features of lung involvement in Niemann-Pick disease and Gaucher disease von Gülhan, Bora, Özçelik, Uğur, Gürakan, Figen, Güçer, Şafak, Orhan, Diclehan, Cinel, Güzin, Yalçn, Ebru, Ersöz, Deniz Doğru, Kiper, Nural, Yüce, Aysel, Kale, Gülsev

Volltext

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis von Sag, Erdal, Kale, Gulsev, Haliloglu, Goknur, Bilginer, Yelda, Akcoren, Zuhal, Orhan, Diclehan, Gucer, Safak, Topaloglu, Haluk, Ozen, Seza, Talim, Beril

Volltext

Acute kidney injury in a patient with COVID-19: Answers von Tastemel Ozturk, Tugba, Baltu, Demet, Kurt Sukur, Eda Didem, Ozsurekci, Yasemin, Gucer, Safak, Basaran, Ozge, Gulhan, Bora, Ozaltin, Fatih, Duzova, Ali, Topaloglu, Rezan

Volltext

Acute kidney injury in a patient with COVID-19: Questions von Tastemel Ozturk, Tugba, Baltu, Demet, Kurt Sukur, Eda Didem, Ozsurekci, Yasemin, Gucer, Safak, Basaran, Ozge, Gulhan, Bora, Ozaltin, Fatih, Duzova, Ali, Topaloglu, Rezan

Volltext

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia von Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.

Volltext

Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation von Eroglu, Fehime K., Ozaltin, Fatih, Gönç, Nazlı, Nalçacıoğlu, Hülya, Özçakar, Z. Birsin, Yalnızoğlu, Dilek, Güçer, Şafak, Orhan, Diclehan, Eminoğlu, Fatma Tuba, Göçmen, Rahşan, Alikaşifoğlu, Ayfer, Topaloğlu, Rezan, Düzova, Ali

Volltext

Glomerulonephritis with crescents in childhood; etiologies and significance of M2 macrophages von Kaykı, Gözdem, Bilginer, Yelda, Özen, Seza, Özaltın, Fatih, Düzova, Ali, Akçören, Zuhal, Topaloğlu, Rezan, Gülhan, Bora, Orhan, Diclehan, Güçer, Şafak

Volltext

Congenital microvillus inclusion disease in the differential diagnosis of intractable metabolic acidosis von Guzoglu, Nilufer, M.D, Aliefendioglu, Didem, Gulerman, Fulya, Gucer, Safak, Kaymaz, Figen

Volltext

A very rare cause of protein losing enteropathy: Gaucher disease von Goktas, Mehmet Akif, Gumus, Ersin, Demir, Hulya, Gulsen, Hayriye Hizarcioglu, Temizel, Inci Nur Saltik, Ozen, Hasan, Gucer, Safak, Yuce, Aysel

Volltext

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center von Kaykı, Gözdem, Güçer, Şafak, Akçören, Zuhal, Orhan, Diclehan, Talim, Beril, Yurdakök, Murat, Yiğit, Şule, Boduroğlu, Osman Koray, Utine, Gülen Eda, Örgül, Gökçen, Beksaç, M Sinan

Volltext

BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immune-osseous-dysplasia von Düzova, Ali, Gülhan, Bora, Topaloğlu, Rezan, Özaltın, Fatih, Cengiz, Ali Bülent, Yetimakman, Ayşe Filiz, Doğru, Deniz, Güçer, Şafak, Beşbaş, Nesrin

Volltext

Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma von Yagci, Begul, Salor, Ozge, Yalcin, Bilgehan, Gurakan, Figen, Gucer, Safak, Buyukpamukcu, Munevver

Volltext

Successful unilateral partial lung lavage in a child with pulmonary alveolar proteinosis von Doğru, Deniz, MD, Yalçın, Ebru, MD, Aslan, Ayşe Tana, MD, Öcal, Turgay, MD, Özçelik, Uğur, MD, Güçer, Şafak, MD, Kale, Gülsev, MD, Haliloglu, Mithat, MD, Kiper, Nural, MD

Volltext

Hepatitis-B virus associated nephropathies: a clinicopathological study in 14 children von OZDAMAR, Sukru O, GUCER, Safak, TINAZTEPE, Keriman

Volltext

Treatment of severe Henoch-Schönlein nephritis: justifying more immunosuppression von Altugan, Fatma Semsa, Ozen, Seza, Aktay-Ayaz, Nuray, Güçer, Safak, Topaloğlu, Rezan, Düzova, Ali, Ozaltin, Fatih, Beşbaş, Nesrin

Volltext

Hydrops fetalis associated with chorioangioma and thrombosis of umbilical vein von Sivasli, Ercan, Tekşam, Ozlem, Haliloğlu, Mithat, Güçer, Safak, Orhan, Diclehan, Gürgey, Aytemiz, Tekinalp, Gülsevin

Volltext

Recurrent Hemoptysis and a Mass in the Thorax in an Infant: The Split Notochord Syndrome von Yazici, Mutlu Uysal, Ekinci, Saniye, Turkmen, Ozlem Keskin, Yalcin, Ebru Gunes, Ciftci, Arbay O., Gucer, Safak, Orhan, Diclehan, Tezcan, Ilhan

Volltext

Epidermal cyst in the patent processus vaginalis: An unusual inguinal mass in a girl von Karnak, Ibrahim, Haliloglu, Mithat, Güçer, Safak

Volltext