المؤلفون: Siri, Barbara, D’Alessandro, Annamaria, Maiorana, Arianna, Porzio, Ottavia, Ravà, Lucilla, Dionisi-Vici, Carlo, Cappa, Marco, Martinelli, Diego

المصدر: European Journal of Endocrinology; Nov2023, Vol. 189 Issue 5, p485-494, 10p

مصطلحات موضوعية: ADRENOCORTICOTROPIC hormone, MITOCHONDRIAL DNA, PEARSON marrow-pancreas syndrome, HYDROCORTISONE, GLUCOCORTICOIDS

المؤلفون: Semeraro, Michela¹ michela.semeraro@opbg.net, Boenzi, Sara¹, Carrozzo, Rosalba², Diodato, Daria², Martinelli, Diego¹, Olivieri, Giorgia¹, Antonetti, Giacomo¹, Sacchetti, Elisa¹, Catesini, Giulio¹, Rizzo, Cristiano¹, Dionisi-Vici, Carlo¹

المصدر: Clinica Chimica Acta. Jun2018, Vol. 481, p156-160. 5p.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *KEARNS-Sayre syndrome, *ORGANIC acids, *GAMMA-hydroxybutyrate, *PEDIATRICS

المؤلفون: Cecatto, Cristiane¹, Amaral, Alexandre Umpierrez^1,2, da Silva, Janaína Camacho¹, Wajner, Alessandro¹, Schimit, Mariana de Oliveira Vargas¹, da Silva, Lucas Henrique Rodrigues¹, Wajner, Simone Magagnin³, Zanatta, Ângela¹, Castilho, Roger Frigério⁴, Wajner, Moacir^1,5,6 mwajner@ufrgs.br

المصدر: FEBS Journal. Apr2018, Vol. 285 Issue 8, p1437-1455. 19p.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *MITOCHONDRIA, *BIOENERGETICS, *CALCIUM ions, *HOMEOSTASIS

المؤلفون: Pena, Loren D.M.¹ loren.pena@duke.edu, van Calcar, Sandra C.², Hansen, Joyanna², Edick, Mathew J.³, Walsh Vockley, Cate⁴, Leslie, Nancy⁵, Cameron, Cynthia³, Mohsen, Al-Walid⁴, Berry, Susan A.⁶, Arnold, Georgianne L.⁷, Vockley, Jerry⁴

المصدر: Molecular Genetics & Metabolism. Aug2016, Vol. 118 Issue 4, p272-281. 10p.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *MEDICAL databases, *INBORN errors of metabolism, *EARLY diagnosis, *NEWBORN screening, *CARDIOMYOPATHIES, *DIAGNOSIS

المؤلفون: Evans, Maureen¹, Andresen, Brage S.^2,3, Nation, Judy¹, Boneh, Avihu^1,4,5 avihu.boneh@rch.org.au

المصدر: Molecular Genetics & Metabolism. Aug2016, Vol. 118 Issue 4, p282-287. 6p.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *NEWBORN screening, *MEDICAL practice, *FATTY acid oxidation disorders, *FOLLOW-up studies (Medicine)

مصطلحات جغرافية: VICTORIA

المؤلفون: Chen, Xin-Yu^1,2 (AUTHOR), Zhao, Si-Yu³ (AUTHOR), Wang, Yan³ (AUTHOR), Wang, Dong³ (AUTHOR), Dong, Chang-Hu⁴ (AUTHOR), Yang, Ying^1,2 (AUTHOR), Wang, Zhi-Hua⁵ (AUTHOR) xasetyy@126.com, Wu, Yuan-Ming^1,2 (AUTHOR) wuym@fmmu.edu.cn

المصدر: Mitochondrial DNA. Part A. Jul2016, Vol. 27 Issue 4, p2492-2495. 4p. 1 Color Photograph, 1 Graph.

مصطلحات موضوعية: *DELETION mutation, *PEARSON marrow-pancreas syndrome, *MITOCHONDRIAL DNA abnormalities, *DIABETES in children, *ETIOLOGY of diseases, *DISEASE progression

المؤلفون: Sato, Takeshi sato_tksjp@yahoo.co.jp, Muroya, Koji¹ kmuroya@kcmc.jp, Hanakawa, Junko¹ hanajun0624@yahoo.co.jp, Iwano, Reiko¹ rosso-nero1996sapporo@hotmail.co.jp, Asakura, Yumi¹ yumi79@mvb.biglobe.ne.jp, Tanaka, Yukichi² ytanaka@kcmc.jp, Murayama, Kei³ kmuraya@mri.biglobe.ne.jp, Ohtake, Akira⁴ akira_oh@saitama-med.ac.jp, Hasegawa, Tomonobu⁵ thaseg@a6.keio.jp, Adachi, Masanori¹ madachi@mars.sannet.ne.jp

المصدر: European Journal of Pediatrics. Dec2015, Vol. 174 Issue 12, p1593-1602. 10p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 3 Charts.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *BARTH syndrome, *MITOCHONDRIAL pathology, *ADENOSINE triphosphatase, *CYTOCHROME oxidase, *POLYMERASE chain reaction, *TRANSFER RNA, *GENETIC disorder diagnosis, *PROTEIN metabolism, *DIAGNOSIS of muscle diseases, *ENZYME metabolism, *DISEASE complications, *DNA, *FIBROBLASTS, *GENETIC disorders, *IMMUNOBLOTTING, *INBORN errors of metabolism, *LIPID metabolism disorders, *MITOCHONDRIA, *MUSCLE diseases, *GENETIC mutation, *NUCLEOTIDE separation, *OXIDOREDUCTASES, *SKIN, *TREATMENT effectiveness, *MITOCHONDRIAL myopathy, *DIAGNOSIS, LITERATURE reviews, INBORN errors of metabolism diagnosis

المؤلفون: JOONHONG PARK^1,2, HYEJIN RYU^1,2, WOORI JANG^1,2, HYOJIN CHAE^1,2, MYUNGSHIN KIM^1,2 microkim@catholic.ac.kr, YONGGOO KIM², JIYEON KIM³, JAE WOOK LEE³, NACK-GYUN CHUNG³, BIN CHO³, BYUNG KYU SUH³

المصدر: Molecular Medicine Reports. 2015, Vol. 11 Issue 5, p3741-3745. 5p.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *LIPID metabolism disorders, *MITOCHONDRIAL myopathy, *MITOCHONDRIAL DNA, *SEPSIS

المؤلفون: Dziedziech, Katarzyna, Śliwiak, Dominik, Woś, Małgorzata

المصدر: Acta Ophthalmologica Polonica / Klinika Oczna; 2020, Vol. 122 Issue 1, p31-33, 3p

مصطلحات موضوعية: PEARSON marrow-pancreas syndrome, CORNEA diseases, EYE diseases, PEDIATRIC ophthalmology, MITOCHONDRIAL myopathy, EYE paralysis

المؤلفون: Hiebert, Rachael M., Welliver, Robert C., Zhongxin Yu

المصدر: Open Forum Infectious Diseases; Fall2016, Vol. 3 Issue 4, p1-4, 4p

مصطلحات موضوعية: FUSARIOSIS, BONE injuries, PEARSON marrow-pancreas syndrome

المؤلفون: Bonito, Cátia A., Leandro, Paula, Ventura, Fátima V., Guedes, Rita C.

المصدر: Chemical Biology & Drug Design; Aug2016, Vol. 88 Issue 2, p281-292, 12p

مصطلحات موضوعية: ACYL-CoA dehydrogenases, DEHYDROGENASES, PEARSON marrow-pancreas syndrome, MOLECULAR dynamics, DYNAMICS

المؤلفون: Sur, Lucia, Floca, Emanuela, Samasca, Gabriel, Lupan, Iulia, Aldea, Cornel, Sur, Genel

المصدر: Clinical Laboratory; 2018, Vol. 64 Issue 3, p375-377, 3p

مصطلحات موضوعية: PEARSON marrow-pancreas syndrome, NEONATAL anemia, DISEASE progression, EXOCRINE pancreatic insufficiency, PANCYTOPENIA

المؤلفون: Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo, Donati, Maria, Federico, Antonio, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Santorelli, Filippo, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Bruno, Claudio, Bello, Luca, Caldarazzo Ienco, Elena, Cardaioli, Elena, Catteruccia, Michela

المصدر: Journal of Neurology; May2015, Vol. 262 Issue 5, p1301-1309, 9p, 6 Charts, 2 Graphs

مصطلحات موضوعية: KEARNS-Sayre syndrome, GENETICS of eye diseases, PEARSON marrow-pancreas syndrome, LIPID metabolism disorders, MITOCHONDRIAL DNA, GENETICS

المؤلفون: John L. Bass, Elizabeth A. Braunlin, Matthew Ambrose, Julia Steinberger, Daniel Cortez, Erick Jimenez, Hani Siddeek

المصدر: Future cardiology. 17(6)

مصطلحات موضوعية: medicine.medical_specialty, Pacemaker, Artificial, business.industry, Femoral vein, Equipment Design, Femoral Vein, medicine.disease, Single Center, Pericardial effusion, Surgery, Pacemaker implantation, Treatment Outcome, Pearson marrow-pancreas syndrome, medicine, Molecular Medicine, Humans, In patient, Cardiology and Cardiovascular Medicine, Lead (electronics), business, Child, Pediatric population, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d548a24ed53303700ff182fef5f671c
https://pubmed.ncbi.nlm.nih.gov/33463371

المؤلفون: Francesca L. Sciacca, Valeria Tiranti, Angelo Iannielli, Vania Broccoli, Camille Peron, Andrea Legati, Andrea Cavaliere, Ambra Rizzo, Roberta Mauceri

المصدر: Stem Cell Research, Vol 50, Iss, Pp 102151-(2021)

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Mitochondrial disease, Skeletal muscle, Cell Biology, General Medicine, Biology, medicine.disease, Molecular biology, Heteroplasmy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pearson's syndrome, medicine.anatomical_structure, lcsh:Biology (General), Pearson marrow-pancreas syndrome, medicine, Human Induced Pluripotent Stem Cells, lcsh:QH301-705.5, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9879116e536b2e9ac894ad56fae06c0
http://www.sciencedirect.com/science/article/pii/S1873506120304529

المؤلفون: Bu, Qingting, Pan, Zhenyu, Saini, Shiv, Kulkarni, Vinay, Roy, Manas, Gupta, Ratan

المصدر: Indian Pediatrics; Mar2016, Vol. 53 Issue 3, p262-264, 3p

مصطلحات موضوعية: PEARSON marrow-pancreas syndrome, INFANT diseases, GENETIC mutation, ACYL-CoA dehydrogenases, DIAGNOSIS

المؤلفون: Caroline S. Halbach, Joshua H. Hou, Susan A. Berry, Raymond G. Areaux, Raghav B. Vadhul

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, Photophobia, Endothelium, genetic structures, business.industry, Case Report, General Medicine, Descemet stripping automated endothelial keratoplasty, medicine.disease, eye diseases, medicine.anatomical_structure, Suture (anatomy), Pull-through technique, Pearson marrow-pancreas syndrome, Ophthalmology, Medicine, sense organs, medicine.symptom, Endothelial dysfunction, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b856c32ba8ebf9e5c9a5f04711ae5c13
https://europepmc.org/articles/PMC7001650/

المصدر: Blood. 5/11/2017, Vol. 129 Issue 19, p2710-2710. 1p.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *LEUKOCYTE count, *MITOCHONDRIAL pathology

المؤلفون: Alter, Blanche P.¹

المصدر: Blood. 7/17/2014, Vol. 124 Issue 3, p312-313. 2p.

مصطلحات موضوعية: *PEARSON marrow-pancreas syndrome, *BLOOD diseases, *LIPID metabolism disorders, *MITOCHONDRIAL myopathy, *ANEMIA, *LEUKEMIA

المؤلفون: Vadhul, Raghav, Halbach, Caroline S., Areaux, Raymond G., Jr., Berry, Susan, Hou, Joshua H.

المساهمون: Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Pearson marrow-pancreas syndrome, Photophobia, Corneal thickening, Peripheral pigmentary retinopathy, DSAEK surgery, Suture pull-through technique

وصف الملف: application/pdf

Relation: Digital Journal of Ophthalmology; Vadhul, R., Halbach, C. S., Areaux, R. G., Jr, Berry, S., & Hou, J. H. (2019). Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through technique. Digital journal of ophthalmology : DJO, 25(4), 59–64. https://doi.org/10.5693/djo.02.2019.09.001; https://hdl.handle.net/1805/22567

الاتاحة: https://hdl.handle.net/1805/22567