Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial

Richard J. Thompson, Henrik Arnell, Reha Artan, +31

˜The œLancet. Gastroenterology & hepatology

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants

Carola Dröge, Michele Bonus, Ulrich Baumann, +19

Journal of Hepatology

Different Genetic VariantsHigh NumberMedicineGeneticsBiliary Tract +10

Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

Tim Niehues, Janine Reichenbach, Jennifer Neubert, +9

Journal of Allergy and Clinical Immunology

Primary ImmunodeficiencyAnhidrotic Ectodermal DysplasiaImmune Cell DevelopmentImmunodeficienciesImmunology +4

Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease

Seza Özen, Nuray Aktay, Elke Lainka, +3

Annals of the Rheumatic Diseases

Marked Dyslipidemia in Human Immunodeficiency Virus-Infected Children on Protease Inhibitor-Containing Antiretroviral Therapy

Elke Lainka, Selda Oezbek, M Falck, +2

PEDIATRICS

Acute liver failure with subsequent cirrhosis as the primary manifestation of <i>TRMU</i> mutations

Ulrike Schara, Jürgen‐Christoph von Kleist-Retzow, Elke Lainka, +8

Journal of Inherited Metabolic Disease

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner, Bianca Peters, Matias Wagner, +48

Genetics in Medicine

MedicineGenotype–phenotype CorrelationsGenetic EpidemiologyImmunologyPathology +8

Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics

Elke Lainka, Ulrich Neudorf, P Lohse, +4

Lara D. Veeken

Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative

Sandra Hansmann, Elke Lainka, Gerd Horneff, +9

Pediatric Rheumatology

Etiology, outcome and prognostic factors of childhood acute liver failure in a German Single Center

Simone Kathemann, Lars P. Bechmann, Jan‐Peter Sowa, +7

Annals of Hepatology