Cargando…

Snyder-Robinson syndrome

Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Starks, Rachel, Kirby, Patricia, Ciliberto, Michael, Hefti, Marco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	São Paulo, SP: Universidade de São Paulo, Hospital Universitário 2018
Materias:	Article / Autopsy Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140707/ https://www.ncbi.nlm.nih.gov/pubmed/30237987 http://dx.doi.org/10.4322/acr.2018.031

Ejemplares similares

Polyamine Homeostasis in Snyder-Robinson Syndrome
por: Murray-Stewart, Tracy, et al.
Publicado: (2018)

Rebalancing polyamine levels to treat Snyder–Robinson syndrome
por: Gilmour, Susan K
Publicado: (2023)

PMON20 Snyder Robinson Syndrome: A Rare Syndrome
por: Manas, F N U, et al.
Publicado: (2022)

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome
por: Stewart, Tracy Murray, et al.
Publicado: (2023)

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
por: Albert, Jessica S, et al.
Publicado: (2015)

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome
por: Marhabaie, Mohammad, et al.
Publicado: (2021)

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase
por: Peng, Yunhui, et al.
Publicado: (2016)

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
por: Li, Chong, et al.
Publicado: (2017)

Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells
por: Tao, Xianzun, et al.
Publicado: (2022)

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome
por: Akinyele, Oluwaseun, et al.
Publicado: (2023)

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
por: Li, Chong, et al.
Publicado: (2018)

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome
por: Qazi, Talal J., et al.
Publicado: (2020)

Modeling Snyder-Robinson Syndrome in multipotent stromal cells reveals impaired mitochondrial function as a potential cause for deficient osteogenesis
por: Ramsay, Ashley L., et al.
Publicado: (2019)

Autopsies
por: Gill, H. D.
Publicado: (1895)

Author Correction: Modeling Snyder-Robinson Syndrome in multipotent stromal cells reveals impaired mitochondrial function as a potential cause for deficient osteogenesis
por: Ramsay, Ashley L., et al.
Publicado: (2019)

Hartland Snyder
Publicado: (1962)

Leigh syndrome in an infant: autopsy and histopathology findings
por: Saini, Arushi Gahlot, et al.
Publicado: (2021)

Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy
por: de Oliveira, Michell Frank Alves, et al.
Publicado: (2021)

Dr. Fairfield Snyder
Publicado: (1912)

Dr. Hartland Snyder
Publicado: (1962)

Sudden death of an egg donor during oocyte retrieval due to ovarian hyperstimulation syndrome
por: Tyagi, Swati, et al.
Publicado: (2022)

Congenital Rubella Syndrome as a possible cause for persistent thrombocytopenia in early infancy: The Forgotten Culprit
por: Kumar, Jogender, et al.
Publicado: (2022)

Coronavirus 229E with Rhinovirus co-infection causing severe acute respiratory distress syndrome with thrombotic microangiopathy and death during Covid-19 pandemic: lessons to be learnt
por: Daisley, Hubert, et al.
Publicado: (2020)

Prune-belly syndrome: an autopsy case report
por: Vasconcelos, Marcela Arruda Pereira Silva, et al.
Publicado: (2014)

Hepatic necrosis associated with drug-induced hypersensitivity syndrome
por: de Campos, Fernando Peixoto Ferraz, et al.
Publicado: (2012)

Hemophagocytic syndrome: a dilemma chasing the intensivists
por: Queiroz, Adriana Façanha, et al.
Publicado: (2015)

Intravascular large B-cell lymphoma presenting with fever and refractory acidosis
por: Storandt, Michael Harrison, et al.
Publicado: (2021)

Congenital presentation of synchronous Atypical Teratoid Rhabdoid Tumor and Malignant Rhabdoid Tumor of the urinary bladder in a term infant
por: Tang, Vivian, et al.
Publicado: (2020)

Budd–Chiari Syndrome: an unnoticed diagnosis
por: Falcão, Camila Kruschewsky, et al.
Publicado: (2015)

Two cases of rare HHV8-driven intravascular lymphoma with synchronous Kaposi sarcoma, both diagnosed at autopsy in renal transplant recipients.
por: Gwiti, Paida, et al.
Publicado: (2020)

Cardiomyopathy as the first manifestation of Friedreich's ataxia
por: Maffei, Rafael Tuzino Leite Neves, et al.
Publicado: (2020)

Primary Ewing sarcoma/primitive neuroectodermal tumor of the lung
por: Gupta, Devika, et al.
Publicado: (2020)

The grim reaper evading modern medicine: aspergillosis, adenovirus, and Hodgkin lymphoma
por: Nichols, Larry, et al.
Publicado: (2020)

Multisystemic Pediatric Langerhans cell histiocytosis: a comprehensive clinico-pathological and BRAF V600E mutation study at autopsy
por: Kapatia, Gargi, et al.
Publicado: (2020)

Persistent median artery inside the carpal tunnel: description and surgical implications
por: Alexander, João Gabriel, et al.
Publicado: (2020)

Multicystic encephalomalacia: An autopsy report of 4 cases
por: Madakshira, Manoj Gopal, et al.
Publicado: (2020)

Post-mortem findings in Staphylococcus aureus acute infective endocarditis
por: Phogat, Deepika, et al.
Publicado: (2020)

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
por: Kapp, Meghan Elizabeth, et al.
Publicado: (2021)

Fatal hemorrhage from peripheral varicose vein rupture
por: Gentile, Guendalina, et al.
Publicado: (2021)

Primary abdominal gas gangrene: a report of two autopsy cases
por: Stoyanov, George S., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_e5cdlroposdhvu8g3sukou1m5m