Rare case of primary carnitine deficiency presenting as acute liver failureShalu Jain, Karunesh Kumar, Smita Malhotra, Anupam Sibal
19 July 2022
Pyoderma gangrenosum in a patient with familial Mediterranean fever and chronic inflammatory seronegative arthropathy: a unique triadMaria Constantinou, Konstantinos Parperis
13 July 2022
SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemiaMd Jasim Alam, Anusree Krishna Mandal, Subinay Mandal, Jadab Kumar Jana
12 July 2022
GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformationsMollie Helena McMahon, Nasim Tahir, Meena Balasubramanian
22 June 2022
Visualisation pattern of fat distribution of a rare disorder: familial partial lipodystrophy (FPLD)Victor Carvalho, Muniqui Scharamm Capett, Rassyre de Jesus Santos Ulhôa
22 June 2022
Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndromeElizabeth Kudlaty, Neha Agnihotri, Amer Khojah
22 June 2022
Prenatal diagnosis of fetal hemivertebra at 12 weeks of gestationDiana Monteiro, Inês Sarmento Gonçalves, Cristina Godinho, Rosete Novais Nogueira
16 June 2022
Thoracic venous malformation: a particular form of a visceral variantInês Pessanha, Paloma Triana, Victor Martinez-Glez, Juan Carlos Lopez-Gutierrez
10 June 2022
Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinomaEunji Yim, Denise Leung
8 June 2022
Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstructionToru Sasaki, Ryutaro Onaga, Ryota Koshu
6 June 2022
