Luisa Bonafé

Regional Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

52h-index7.7kcitations175works0.02yr avg
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Research Topics

Connective tissue disorders research(58), Metabolism and Genetic Disorders(38), Mitochondrial Function and Pathology(16), Biochemical and Molecular Research(13), Neonatal Respiratory Health Research(11)

Publications172 total

Pédiatrie. Diagnostic de l’hypermobilité articulaire généralisée chez l’enfant
Revue Médicale Suisse·2025Open Access
Identification of potential non-invasive biomarkers in diastrophic dysplasia
Bone·2023· 2 citedOpen Access
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia
Clinical Dysmorphology·2022
Endovascular treatment for acute ischemic stroke at a primary stroke center: First results of the Perpignan center
Revue Neurologique·2021· 1 cited
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
Nature·2021· 116 citedOpen Access
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders
American Journal of Medical Genetics Part A·2021· 4 cited
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life
Swiss Medical Weekly·2020· 20 citedOpen Access
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual
Journal of Bone and Mineral Metabolism·2018· 3 cited
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
American Journal of Clinical Nutrition·2018· 12 citedOpen Access
Einsicht in die Lunge, Nachsicht mit sich selbst, Klarsicht für Ärztinnen als Mütter
Kompass Pneumologie·2018Open Access
Lungenbeteiligung bei erwachsenen Patienten mit angeborenen Stoffwechselerkrankungen
Kompass Pneumologie·2018
Inborn Errors of Metabolism in Adults: Clues for Nutritional Management in ICU
2017
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management
Clinical Nutrition·2017· 9 cited
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling
The Journal of Cell Biology·2017· 64 citedOpen Access
Erratum: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Nature Genetics·2017· 6 citedOpen Access
Current Care and Investigational Therapies in Achondroplasia
Current Osteoporosis Reports·2017· 71 citedOpen Access
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism
Respiration·2017· 7 citedOpen Access
Joint CHEST-SGP Congress 2017. Basel, Switzerland, 7-9 June 2017: Abstracts
Respiration·2017· 4 citedOpen Access
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
American Journal of Medical Genetics Part A·2016· 14 citedOpen Access
Patients with osteogenesis imperfecta disease walk with reduced ground reaction force compared to healthy subjects
Revue de Chirurgie Orthopédique et Traumatologique·2016· 1 cited
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Frequent Co-authors

Andrea Superti‐Furga(32), Sheila Unger(23), Belinda Campos‐Xavier(13), Gen Nishimura(8), Andreas Zankl(8), Bernhard Zabel(8), Carlo Rivolta(7), Valérie Cormier‐Daire(6), Nenad Blau(6), Ekkehart Lausch(6), Diana Ballhausen(6), Ravi Savarirayan(5), Jürgen W. Spranger(5), Shiro Ikegawa(5), Beat Thöny(5), Yasemin Alanay(5), Brian J. Stevenson(5), Sheela Nampoothiri(5), Geert Mortier(4), Matthew L. Warman(4)