Relevant bibliographies by topics / Creatine/genetics

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters

Academic literature on the topic 'Creatine/genetics'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Creatine/genetics"

1

Kious, Brent M., Douglas G. Kondo, and Perry F. Renshaw. "Creatine for the Treatment of Depression." Biomolecules 9, no. 9 (2019): 406. http://dx.doi.org/10.3390/biom9090406.

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Depressed mood, which can occur in the context of major depressive disorder, bipolar disorder, and other conditions, represents a serious threat to public health and wellness. Conventional treatments are not effective for a significant proportion of patients and interventions that are often beneficial for treatment-refractory depression are not widely available. There is, therefore, an immense need to identify novel antidepressant strategies, particularly strategies that target physiological pathways that are distinct from those addressed by conventional treatments. There is growing evidence f
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2

William, Batten, Pierre Germaine, Guilder Laura, and Hogg Sarah. "P19 Clinical pearl: pharmaceutical management of siblings with guanidinoacetate methyltransferase (gamt) deficiency." Archives of Disease in Childhood 103, no. 2 (2018): e1.24-e1. http://dx.doi.org/10.1136/archdischild-2017-314584.30.

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SituationPatient A and B are 9 and 4 year old siblings with developmental delay and in particular; speech delay, seizures and behavioural difficulties. They were found to have GAMT deficiency due to a heterozygous pathogenic GAMT splicing mutation c.327G>A and pathogenic GAMT nonsense mutation c.522G>A (Trp174Ter). Patient A and B were referred to the regional metabolic team for further input. Management of this rare disorder involves combination treatment with specialist medications and a protein restricted diet.1,2BackgroundGAMT deficiency is an inherited disorder of creatine synthesis
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Puissant, Alexandre, Nina Fenouille, Christopher F. Bassil, et al. "Targeting the Creatine Kinase Pathway in EVI1-Positive Acute Myeloid Leukemia." Blood 128, no. 22 (2016): 523. http://dx.doi.org/10.1182/blood.v128.22.523.523.

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Abstract Abnormal expression of the transcription factor EVI1 through chromosome 3q26 rearrangements has been implicated in the development of one of the most therapeutically challenging high-risk subtypes of acute myeloid leukemia (AML). Here we integrated genomic and metabolic screening of hematopoietic stem cells to reveal that EVI1 overexpression altered cellular metabolism. A pooled shRNA screen targeting metabolic enzymes identified the ATP-buffering, mitochondrial creatine kinase CKMT1 as a druggable dependency in EVI1-positive AML. Of 18 screened AML cell lines harboring various geneti
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Gómez-Gallego, Carlos, Jose Morales, Daniel Monleón, et al. "Human Breast Milk NMR Metabolomic Profile across Specific Geographical Locations and Its Association with the Milk Microbiota." Nutrients 10, no. 10 (2018): 1355. http://dx.doi.org/10.3390/nu10101355.

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The composition of human breast milk is highly variable, and it can be influenced by genetics, diet, lifestyle, and other environmental factors. This study aimed to investigate the impact of geographical location and mode of delivery on the nuclear magnetic resonance spectroscopy (NMR) metabolic profile of breast milk and its relationship with the milk microbiome. Human milk metabolic and microbiota profiles were determined using NMR and 16S rRNA gene sequencing, respectively, in 79 healthy women from Finland, Spain, South Africa, and China. Up to 68 metabolites, including amino acids, oligosa
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Sharer, J. Daniel, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M. C. Wamelink, and Sarah Young. "Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics." Genetics in Medicine 19, no. 2 (2017): 256–63. http://dx.doi.org/10.1038/gim.2016.203.

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Walters, Jon, and Atik Baborie. "Muscle biopsy: what and why and when?" Practical Neurology 20, no. 5 (2020): 385–95. http://dx.doi.org/10.1136/practneurol-2019-002465.

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Skeletal muscle biopsy remains an important investigative tool in the diagnosis of a variety of muscle disorders. Traditionally, someone with a limb-girdle muscle weakness, myopathic changes on electrophysiology and raised serum creatine kinase (CK) would have a muscle biopsy. However, we are living through a genetics revolution, and so do all such patients still need a biopsy? When should we undertake a muscle biopsy in patients with a distal, scapuloperoneal or other patterns of muscle weakness? When should patients with myositis, rhabdomyolysis, myalgia, hyperCKaemia or a drug-related myopa
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7

Bagger, Louise Wulff, Per Kim Dyhr Hansen, Peter Schwarz, and Barbara Rubek Nielsen. "Severe hypophosphataemia following oral bisphosphonate treatment in a patient with osteoporosis." BMJ Case Reports 13, no. 10 (2020): e235083. http://dx.doi.org/10.1136/bcr-2020-235083.

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A 76-year-old woman was treated with oral bisphosphonate, alendronate, for osteoporosis in an outpatient clinic. Routine blood tests 4 months after alendronate prescription surprisingly revealed severe hypophosphataemia. The patient was hospitalised and treated with intravenous and oral phosphate supplements. Alendronate was later reintroduced as treatment for osteoporosis and the patient once again presented with severe hypophosphataemia in subsequent routine blood tests. The patient had only presented with lower extremity pain, muscle weakness and difficulty walking. Blood tests in the emerg
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8

Effat, Laila K., Ashraf A. El-Harouni, Khalda S. Amr, Tarik I. El-Minisi, Nagwa Abdel Meguid, and Mostafa El-Awady. "Screening of Dystrophin Gene Deletions in Egyptian Patients with DMD/BMD Muscular Dystrophies." Disease Markers 16, no. 3-4 (2000): 125–29. http://dx.doi.org/10.1155/2000/437372.

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Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phosphokinase enzyme (CPK) levels and DNA analysis. Multiplex PCR using 18 pairs of specific primers were used for screening of deletion mutations within the dystrophin gene. A frequency of 55% among the fam
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9

Contreras-Sesvold, Carmen, Bradley D. Revenis, Francis G. O’Connor, and Patricia A. Deuster. "Association of Plasma Heat Shock Protein 70, Interleukin 6, and Creatine Kinase Concentrations in a Healthy, Young Adult Population." Journal of Biomarkers 2015 (November 18, 2015): 1–8. http://dx.doi.org/10.1155/2015/967120.

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Variations of baseline plasma concentrations of creatine kinase (CK), heat shock protein 70 (HSP70), and interleukin 6 (IL-6) have been reported. We report categorical associations which may influence these protein levels. Methods. Blood was harvested for DNA and plasma protein analysis from 567 adults. Mean protein levels of CK, HSP70, and IL-6 were compared by sex, ethnicity, genetic variants—CKMM Nco1 (rs1803285), HSPA1B +A1538G (rs1061581), and IL6 G-174C (rs1800795)—self-reported history of exercise, oral contraceptive use, and dietary supplement use. Results. SNP major allele frequencies
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10

Merriman, A., and S. Boyle. "OP0079 LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B - A RARE MYOSITIS MIMIC." Annals of the Rheumatic Diseases 80, Suppl 1 (2021): 43.1–43. http://dx.doi.org/10.1136/annrheumdis-2021-eular.1251.

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Background:Proximal muscle weakness with associated raised creatine kinase (CK) commonly leads to referral to Rheumatology for the investigation of Idiopathic Inflammatory Myopathy (IIM). Some genetic myopathies can have a similar presentation with investigations that suggest inflammatory disease, leading to difficulty with accurate diagnosis (Amato & Brown, 2011; Harlan & Mammen, 2019).Objectives:To describe the case of a patient with Limb Girdle Muscular Dystrophy Type 2B (LGMD2B), whose initial presentation mimicked an inflammatory myopathy.Methods:Case report.Results:A 43-year-old
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Dissertations / Theses on the topic "Creatine/genetics"

1

Madeira, Marlene de Freitas. "Diagnóstico bioquímico das síndromes de deficiência de creatina." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-22062010-133327/.

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Recentemente, foi descrito um grupo de alterações no metabolismo da creatina denominado Síndromes de Deficiência de Creatina. Há três formas da doença geneticamente determinadas que cursam com deficiência de creatina, seja por comprometimento de sua síntese ou por defeito na proteína transportadora. O espectro de apresentação clínica dessa condição é inespecífico e inclui atraso ou estagnação do desenvolvimento neuromotor, hipotonia muscular, movimentos involuntários do tipo coreoatetose, retardo ou ausência do desenvolvimento da fala, retardo mental de grau variável, comportamento autista e e
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Silva, Marly Conceição. "Diagnóstico da cardiomiopatia na distrofia muscular progressiva por ressonância magnética cardiovascular - correlação com tratamento, prognóstico e preditores genéticos." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5131/tde-01112013-093410/.

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Introdução: Distrofia muscular progressiva nas formas de Duchenne (DMD) e Becker (DMB) são doenças caracterizadas por progressiva degeneração musculoesquelética e substituição por tecido fibrogorduroso. O envolvimento cardíaco está presente em 80% dos pacientes, apresenta curso clínico silencioso e é diagnosticado tardiamente pelos métodos tradicionais. Objetivos: 1. Investigar a progressão da fibrose miocárdica pela ressonância magnética cardíaca (RMC), em ensaio clínico randomizado para tratamento ou não com IECA, de pacientes com DMD e DMB e fração de ejeção ventricular esquerda (FEVE) pres
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Hoffman, Gregg G. Ellington W. Ross. "Octamer formation and stability in a mitochondrial creatine kinase from a protostome invertebrate." Diss., 2005. http://etd.lib.fsu.edu/theses/available/etd-11022005-102455.

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Thesis (Ph. D.)--Florida State University, 2005.<br>Advisor: W. Ross Ellington, Florida State University, College of Arts and Sciences, Dept. of Biological Science. Title and description from dissertation home page (viewed Jan. 26, 2006). Document formatted into pages; contains x, 82 pages. Includes bibliographical references.
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Zetler, Rosa Zea. "Genetic association study of plasma creatine kinase levels in the Montreal Heart Institute Hospital Cohort." Thèse, 2014. http://hdl.handle.net/1866/11554.

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Il a déjà été démontré que les statines (ou inhibiteurs de la HMG-CoA réductase) sont efficaces pour réduire le LDL-cholestérol et elles se sont depuis établies comme étant le pilier dans le traitement de la dyslipidémie. Toutefois, environ 10 pourcent des utilisateurs de statines souffrent d'effets indésirables, généralement sous forme de myopathie qui est souvent accompagnée d’un taux élevé de la créatine kinase (CK) plasmatique. Il est fréquent que les patients doivent arrêter les statines à cause d’un taux de CK dépassant un seuil de référence. Nous avons examiné le taux de CK de près de
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Books on the topic "Creatine/genetics"

1

Creatine And Creatine Kinase In Health And Disease. Springer, 2008.

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2

Wyss, Markus, and Gajja S. Salomons. Creatine and Creatine Kinase in Health and Disease. Springer, 2008.

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Book chapters on the topic "Creatine/genetics"

1

"Creatine Deficiency." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_3778.

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2

"Creatine ([N-aminoiminomethyl]-N-methylglycine)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_3777.

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3

Firth, Helen V., Jane A. Hurst, and Judith G. Hall. "CK (Creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD)." In Oxford Desk Reference - Clinical Genetics. Oxford University Press, 2005. http://dx.doi.org/10.1093/med/1.1.med-9780192628961-div1-007008.

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You might also be interested in the extended bibliographies on the topic 'Creatine/genetics' for particular source types:
Journal articles
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