Publicaciones en colaboración con investigadoras/es de Necker-Enfants Malades Hospital (49)

2024

  1. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

    Blood, Vol. 144, Núm. 11, pp. 1193-1205

2023

  1. Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology

    Clinical Genetics, Vol. 103, Núm. 1, pp. 114-118

  2. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes

  2. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  2. Early vaginal progesterone versus placebo in twin pregnancies for the prevention of spontaneous preterm birth: a randomized, double-blind trial

    American Journal of Obstetrics and Gynecology, Vol. 224, Núm. 1, pp. 86.e1-86.e19

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  4. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  5. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

  6. Propensity score and desirability of outcome ranking analysis of ertapenem for treatment of nonsevere bacteremic urinary tract infections due to extended-spectrum-beta-lactamase-producing enterobacterales in kidney transplant recipients

    Antimicrobial Agents and Chemotherapy, Vol. 65, Núm. 11

2020

  1. Addition of maraviroc versus placebo to standard antiretroviral therapy for initial treatment of advanced HIV infection: A randomized trial

    Annals of Internal Medicine, Vol. 172, Núm. 5, pp. 297-305

  2. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

2019

  1. Betaine anhydrous in homocystinuria: Results from the RoCH registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Aging and the evolution of comorbidities among HIV-positive individuals in a European cohort

    AIDS (London, England), Vol. 32, Núm. 16, pp. 2405-2416

  2. Developing collaborative works for faster progress on fungal respiratory infections in cystic fibrosis

    Medical Mycology, Vol. 56, pp. S42-S59

  3. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes, Vol. 19, pp. 47-63

  4. Symptomatic management of febrile illnesses in children: A systematic review and meta-analysis of parents' knowledge and behaviors and their evolution over time

    Frontiers in Pediatrics, Vol. 6

  5. Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes

    Pediatric Diabetes, Vol. 19, Núm. 3, pp. 559-565

  6. Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis

    Blood, Vol. 132, Núm. 19, pp. 2088-2096