Zobrazeno 1 - 10
of 3 564
pro vyhledávání: '"Lorenzo D"'
Autor:
Elizabeth Emma Palmer, Helene Cederroth, Mikk Cederroth, Angelica Maria Delgado-Vega, Natalie Roberts, Fulya Taylan, Ann Nordgren, Lorenzo D. Botto
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-7 (2024)
Abstract Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from
Externí odkaz:
https://doaj.org/article/9b92d41d8a6c46049490babb179131fb
Autor:
Jorge A Maldonado-Jáquez, José S Mora-Flores, Lorenzo D Granados-Rivera, Omar Hernández-Mendo, Jaime Gallegos-Sánchez, Glafiro Torres-Hernández
Publikováno v:
Revista MVZ Cordoba, Vol 29, Iss 3 (2024)
Objetivo. Evaluar la viabilidad económica de incorporar un esquema de complementación alimenticia continua en cabras locales en pastoreo a partir del último tercio de gestación y durante la lactación. Materiales y métodos. Se utilizaron 24 cabr
Externí odkaz:
https://doaj.org/article/e00cfe975c434c3b9bc8396f4eeab1cd
Autor:
Filippo Ingoglia, Mohsen Tanfous, Benjamin Ellezam, Katherine J. Anderson, Marzia Pasquali, Lorenzo D. Botto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101142- (2024)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a primary mitochondrial dysfunction affecting mitochondrial fatty acid and protein metabolism, caused by biallelic pathogenic variants in ETFA, ETFB, or ETFDH genes. The heterogeneous phenotypes as
Externí odkaz:
https://doaj.org/article/13712aa79f9049628045d3f7e554c0c8
Autor:
Kathleen Strong, Judith Robb-McCord, Salimah Walani, Cecilia Mellado, Lorenzo D. Botto, Guillermo Lay-Son, Theresa Diaz, Tahmina Banu, Kokila Lakhoo, Anshu Banerjee
Publikováno v:
Global Health Action, Vol 17, Iss 1 (2024)
Background More children are surviving through interventions to address the infectious causes of under-5 mortality; subsequently, the proportion of deaths caused by birth defects is increasing. Prevention, diagnosis, treatment and care interventions
Externí odkaz:
https://doaj.org/article/416d9856cb0d42b99084fe1f5c03bd9d
Autor:
Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care to optimize diagnostic outcomes.
Externí odkaz:
https://doaj.org/article/2c3c80d58dd945c1b647c7d3b1dfd30b
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0293110 (2023)
This study addresses the paucity of research concerning the subjective experiences of those affected by anosmia. In the study, we interviewed individuals(n = 11) recruited via the charity (Fifth Sense) and used Interpretative Phenomenological Analysi
Externí odkaz:
https://doaj.org/article/5d5f27d4c9834cc89c82dab97a27dedd
Autor:
Aminkeng Zawuo Leke, Helen Malherbe, Emma Kalk, Ushma Mehta, Phylis Kisa, Lorenzo D Botto, Idowu Ayede, Lee Fairlie, Nkwati Michel Maboh, Ieda Orioli, Rebecca Zash, Ronald Kusolo, Daniel Mumpe-Mwanja, Robert Serujogi, Bodo Bongomin, Caroline Osoro, Clarisse Dah, Olive Sentumbwe-Mugisha, Hamisi Kimaro Shabani, Philippa Musoke, Helen Dolk, Linda Barlow-Mosha
Publikováno v:
PLOS Global Public Health, Vol 3, Iss 6, p e0001850 (2023)
The aim of this scoping review was to determine the scope, objectives and methodology of contemporary published research on congenital anomalies (CAs) in sub-Saharan Africa (SSA), to inform activities of the newly established sub-Saharan African Cong
Externí odkaz:
https://doaj.org/article/209cd5c1036142869f3824257175261e
Autor:
Shelby Geilmann, Rachel Solstad, Rachel Palmquist, Josue Flores Daboub, Lorenzo D. Botto, Peter H. Grubb, Josh L. Bonkowsky, Nicola Longo, Sabrina Malone Jenkins
Publikováno v:
Clinical Case Reports, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Fanconi anemia, FA, is a rare, multi‐system disease caused by pathogenic variants in DNA repair genes. We report a novel RAD51 variant in an infant with FA whose tracheobronchomalacia has not been described in FA. His severe presentation e
Externí odkaz:
https://doaj.org/article/9d8a40e81ad24ce18fa2d01a05f9ef8e
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100891- (2022)
We report the case of a 19-month-old girl with late-onset ornithine transcarbamylase (OTC) deficiency initially referred to gastroenterology for intermittent vomiting lasting a year and abnormal liver enzymes (AST 730 U/L [reference range 26–55 U/L
Externí odkaz:
https://doaj.org/article/e7bdb1069daa473baa25a2fe80517325
Autor:
Lisa Schwarz, Karan Sharma, Lorenzo D. Dodi, Lara-Sophie Rieder, Petra Fallier-Becker, Nicolas Casadei, Julia C. Fitzgerald
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
The Rho GTPase Miro1, located at the mitochondrial outer membrane is known to properly distribute mitochondria to synapses, aid calcium buffering and initiate PINK1-Parkin mediated mitophagy. Several heterozygous RHOT1/Miro1 variants were identified
Externí odkaz:
https://doaj.org/article/88dec8d5f0184605a09fda4da562eaec