Cargando…

Primary coenzyme Q(10) deficiency presenting as fatal neonatal multiorgan failure

Coenzyme Q(10) deficiency is a clinically and genetically heterogeneous disorder, with manifestations that may range from fatal neonatal multisystem failure, to adult-onset encephalopathy. We report a patient who presented at birth with severe lactic acidosis, proteinuria, dicarboxylic aciduria, and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez, Maria Angeles, Chiandetti, Lino, Clementi, Maurizio, Trevisson, Eva, Navas, Placido, Zuffardi, Orsetta, Salviati, Leonardo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430297/ https://www.ncbi.nlm.nih.gov/pubmed/25564041 http://dx.doi.org/10.1038/ejhg.2014.277

Ejemplares similares

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q(10) biosynthesis()
por: Nguyen, Theresa P.T., et al.
Publicado: (2014)

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q(10) deficiency()
por: Doimo, Mara, et al.
Publicado: (2014)

Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells
por: Cerqua, Cristina, et al.
Publicado: (2019)

Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function
por: Vazquez Fonseca, Luis, et al.
Publicado: (2017)

A Data Fusion Approach to Enhance Association Study in Epilepsy
por: Marini, Simone, et al.
Publicado: (2016)

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6
por: Acosta Lopez, Manuel J., et al.
Publicado: (2019)

Editorial: Coenzyme Q Redox State and Cellular Homeostasis
por: Sanz, Alberto, et al.
Publicado: (2018)

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations
por: Casarin, Alberto, et al.
Publicado: (2012)

A newborn with ambiguous genitalia and a complex X;Y rearrangement
por: Dehghani, Mohammadreza, et al.
Publicado: (2014)

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
por: Morbidoni, Valeria, et al.
Publicado: (2021)

Survival transcriptome in the coenzyme Q(10) deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q(10) deficiencies
por: Fernández-Ayala, Daniel J M, et al.
Publicado: (2013)

XX males SRY negative: a confirmed cause of infertility
por: Vetro, Annalisa, et al.
Publicado: (2011)

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion
por: Vetro, Annalisa, et al.
Publicado: (2014)

Coenzyme Q(10) Supplementation in Aging and Disease
por: Hernández-Camacho, Juan D., et al.
Publicado: (2018)

Biochemical Assessment of Coenzyme Q(10) Deficiency
por: Rodríguez-Aguilera, Juan Carlos, et al.
Publicado: (2017)

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature
por: MANOLAKOS, EMMANOUIL, et al.
Publicado: (2014)

Plasma membrane coenzyme Q: evidence for a role in autism
por: Crane, Frederick L, et al.
Publicado: (2014)

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
por: Toldo, Irene, et al.
Publicado: (2011)

Coenzyme Q at the Hinge of Health and Metabolic Diseases
por: Hernández-Camacho, Juan Diego, et al.
Publicado: (2021)

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
por: Borgia, Doriana, et al.
Publicado: (2017)

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina
por: Montioli, Riccardo, et al.
Publicado: (2021)

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
por: Errichiello, Edoardo, et al.
Publicado: (2017)

SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
por: Errichiello, Edoardo, et al.
Publicado: (2017)

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
por: Sifakis, Stavros, et al.
Publicado: (2012)

Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs
por: Rossi, Elena, et al.
Publicado: (2014)

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas
por: Trevisson, Eva, et al.
Publicado: (2019)

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
por: Burlina, Alberto B., et al.
Publicado: (2019)

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
por: Papadopoulou, Zoe, et al.
Publicado: (2017)

Complexity of the 5′UTR region of the CLCN5 gene: eleven 5′UTR ends are differentially expressed in the human kidney
por: Tosetto, Enrica, et al.
Publicado: (2014)

Cell Survival from Chemotherapy Depends on NF-κB Transcriptional Up-Regulation of Coenzyme Q Biosynthesis
por: Brea-Calvo, Gloria, et al.
Publicado: (2009)

Coenzyme Q(10) Treatment Monitoring in Different Human Biological Samples
por: Paredes-Fuentes, Abraham J., et al.
Publicado: (2020)

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH
por: Manolakos, Emmanouil, et al.
Publicado: (2013)

Deconstructing Multiorgan Sarcoidosis
por: Judson, Marc A.
Publicado: (2023)

Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy
por: Salviati, Alessandro, et al.
Publicado: (2010)

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
por: Andolfo, Immacolata, et al.
Publicado: (2019)

A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy
por: Caretto, Amelia, et al.
Publicado: (2014)

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis
por: Errichiello, Edoardo, et al.
Publicado: (2019)

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
por: Errichiello, Edoardo, et al.
Publicado: (2020)

Role of Complement in Multiorgan Failure
por: Rittirsch, Daniel, et al.
Publicado: (2012)

Thymoma-associated multiorgan autoimmunity
por: Hung, Chien-Tzu, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_c0h3f1g41uuq9obnuh6kmrnhag