المؤلفون: Federico Baronio, Francesca Conti, Angela Miniaci, Filomena Carfagnini, Valeria Di Natale, Giulio Di Donato, Matthias Testi, Camilla Totaro, Alessandro De Fanti, Sara Boenzi, Carlo Dionisi-Vici, Susanna Esposito, Andrea Pession

المصدر: Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100833- (2022)

مصطلحات موضوعية: Wolman disease, Hemophagocytic lymphohistiocytosis, Sebelipase alpha, Oxysterols, Adrenal calcifications, Lysosomal acid lipase, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001282; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/d3292bd338b34c0ba987114461dbc513

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المؤلفون: Sonia Joseph, Christopher R.K. Ching, Amanda Hughes, Dimitrios Angelis, Robert Bennett, Manjula Mudduluru

المصدر: Clinical Case Reports

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, fungi, food and beverages, Case Report, General Medicine, Case Reports, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Adrenal calcifications, Adrenal insufficiency, Etiology, Medicine, Adrenal calcification, adrenal hemorrhage, 030212 general & internal medicine, Presentation (obstetrics), neonate, Adrenal Hemorrhage, business, adrenal insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::874bab4f870c0491bde44b14809a46fe
http://europepmc.org/articles/PMC5889250

المؤلفون: Van Coster, Rudy, Smet, Joél, Verloo, P., Vanhaesebrouck, P., Viscomi, C., Van Den Broecke, C., De Paepe, Boél, De Meirleir, Linda, Zeviani, Massimo, Seneca, Sara, Lissens, Willy, De Praeter, C.m.

المساهمون: Department of Embryology and Genetics, Pediatrics

مصطلحات موضوعية: lactic acidosis, ribosomal 12S and 16S, mitochondrial DNA, adrenal calcifications, oxphos deficiencies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3848::a6faaecfe05b15fab7536e67a5df241b
https://biblio.vub.ac.be/vubir/mitochondrial-abnormalities-in-a-newborn-with-lactic-acidosis-and-adrenal-calcifications(298ac03f-9f42-4359-99d2-1d2eb77bdb93).html

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المؤلفون: Baronio F; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Conti F; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Miniaci A; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Carfagnini F; Department of Radiology, Pediatric Radiology Unit IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Di Natale V; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Di Donato G; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Testi M; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Totaro C; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., De Fanti A; Maternal-Infantile Department, Pediatric Unit, IRCCS AUSL Reggio Emilia, S.Maria Nuova Hospital, 42122 Reggio Emilia, Italy., Boenzi S; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy., Dionisi-Vici C; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy., Esposito S; Paediatric Clinic, Department of Medicine and Surgery, University Hospital, 43126 Parma, Italy., Pession A; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Dec 20; Vol. 30, pp. 100833. Date of Electronic Publication: 2021 Dec 20 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE