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Journal articles on the topic 'Creatine/genetics'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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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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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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11

Averos, X., A. Herranz, R. Sanchez, J. X. Comella, and L. F. Gosalvez. "Serum stress parameters in pigs transported to slaughter under commercial conditions in different seasons." Veterinární Medicína 52, No. 8 (2008): 333–42. http://dx.doi.org/10.17221/1874-vetmed.

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To determine the influence of slaughter transports carried out under commercial conditions, 162 pigs weighing 98 kg and of both sexes were studied. A total of seven transports were performed in summer and in winter conditions, with durations of 1 h and 13 h 15 min within each season. Cortisol, glucose, creatine phosphokinase (CPK), lactate dehydrogenase (LDH), albumin and total protein serum concentrations were measured. All variables increased during transport and decreased during lairage (<i>P</i> < 0.001), with cortisol values being 3.47 ± 0.19, 8.52 ± 0.28, and 6.96 ± 0.18 µ

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12

Rahman, Md Mizanur, and Kanij Fatema. "Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country." Journal of Epilepsy Research 11, no. 1 (2021): 22–31. http://dx.doi.org/10.14581/jer.21004.

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Background and Purpose: In childhood epilepsy, genetic etiology is increasingly recognized in recent years with the advent of next generation sequencing. This has broadened the scope of precision medicine in intractable epilepsy, particularly epileptic encephalopathy (EE). Developmental disorder (DD) is an integral part of childhood uncontrolled epilepsy. This study was performed to investigate the genetic etiology of childhood epilepsy and DD.Methods: In this study, 40 children with epilepsy and DD with positive genetic mutation were included retrospectively. It was done in a tertiary care re

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13

Maughan, Ronald J., Louise M. Burke, Jiri Dvorak, et al. "IOC consensus statement: dietary supplements and the high-performance athlete." British Journal of Sports Medicine 52, no. 7 (2018): 439–55. http://dx.doi.org/10.1136/bjsports-2018-099027.

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Nutrition usually makes a small but potentially valuable contribution to successful performance in elite athletes, and dietary supplements can make a minor contribution to this nutrition programme. Nonetheless, supplement use is widespread at all levels of sport. Products described as supplements target different issues, including (1) the management of micronutrient deficiencies, (2) supply of convenient forms of energy and macronutrients, and (3) provision of direct benefits to performance or (4) indirect benefits such as supporting intense training regimens. The appropriate use of some suppl

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14

Smith, Laurie D., Matthew N. Bainbridge, Richard B. Parad, and Arindam Bhattacharjee. "Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges." International Journal of Neonatal Screening 6, no. 2 (2020): 32. http://dx.doi.org/10.3390/ijns6020032.

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Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood spots (DBS). As first tier enzymatic screening tests have false positive results, an immediate second tier test on the same sample is critical in resolving newborn health status. Two methodologies have been proposed for second tier testing: (a) measurement of enzymatic activities such as of Creatine/Creatinine over alpha-glucosidase ratio, and (b) DNA sequencing (a molecular genetics approach), such as targeted next generation sequencing

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15

Ushakova, Rima A., Svetlana P. Bochkareva, and Anna A. Vereshhinskaja. "Children who have cytolysis syndrome in debut of genetic diseases: analysis of primary morbidity." Russian Pediatric Journal 1, no. 4 (2021): 18–24. http://dx.doi.org/10.15690/rpj.v1i4.2192.

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Background. Cytolysis syndrome often helps to suspect liver pathology. However, a rare genetic disease may manifest under the guise of increased transaminases. No true etiology of the disease is then identified with the standard examination algorithm. It is not recognized for a long time. Patients diagnosed with unspecified hepatitis receive irrational treatment, which in turn leads to deterioration in the quality of medical care.Purpose. To analyze the medical history, laboratory test results and list of clinical symptoms in pediatric patients with genetic diseases in the debut, and to correl

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16

Salomons, Gajja S., Silvy J. M. van Dooren, Nanda M. Verhoeven, et al. "X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome." American Journal of Human Genetics 68, no. 6 (2001): 1497–500. http://dx.doi.org/10.1086/320595.

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17

Monnier, Nicole, Renée Krivosic-Horber, Jean-François Payen, et al. "Presence of Two Different Genetic Traits in Malignant Hyperthermia Families." Anesthesiology 97, no. 5 (2002): 1067–74. http://dx.doi.org/10.1097/00000542-200211000-00007.

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Background Malignant hyperthermia susceptibility (MHS), an uncommon syndrome often inherited as an autosomal dominant trait, is characterized by a genetic and clinical heterogeneity. In this article, the authors described six pedigrees in which both parents of MHS patients were diagnosed with MHS by an diagnostic test. Haplotype and mutation analysis revealed that more than one MHS genetic trait was present in these families. Methods A panel of 104 MHS families were investigated with a caffeine halothane contracture test on muscle biopsy specimens. When possible, blood creatine kinase concentr

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18

Rosenberg, Efraim H., Cristina Martínez Muñoz, Ton J. Degrauw, Cor nelis Jakobs, and Gajja S. Salomons. "Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts." Journal of Inherited Metabolic Disease 29, no. 2-3 (2006): 345–46. http://dx.doi.org/10.1007/s10545-006-0271-6.

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19

Schiaffino, Maria C., Carlo Bellini, Laura Costabello, et al. "X-linked creatine transporter deficiency." Neurogenetics 6, no. 3 (2005): 165–68. http://dx.doi.org/10.1007/s10048-005-0002-4.

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20

Smeitink, J., A. Stadhouders, R. Sengers, et al. "Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia." Neuromuscular Disorders 2, no. 1 (1992): 35–40. http://dx.doi.org/10.1016/0960-8966(92)90024-z.

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21

Ardon, Orly, Cristina Amat di San Filippo, Gajja S. Salomons, and Nicola Longo. "Creatine transporter deficiency in two half-brothers." American Journal of Medical Genetics Part A 152A, no. 8 (2010): 1979–83. http://dx.doi.org/10.1002/ajmg.a.33551.

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22

Alcaide, Patricia, Begoña Merinero, Pedro Ruiz-Sala, et al. "Defining the pathogenicity of creatine deficiency syndrome." Human Mutation 32, no. 3 (2011): 282–91. http://dx.doi.org/10.1002/humu.21421.

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23

Salomons, G. S., S. J. M. Van Dooren, N. M. Verhoeven, et al. "X-linked creatine transporter defect: An overview." Journal of Inherited Metabolic Disease 26, no. 2-3 (2003): 309–18. http://dx.doi.org/10.1023/a:1024405821638.

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24

Valayannopoulos, Vassili, Nathalie Boddaert, Allel Chabli, et al. "Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect." Journal of Inherited Metabolic Disease 35, no. 1 (2011): 151–57. http://dx.doi.org/10.1007/s10545-011-9358-9.

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25

Bürklen, Tanja S., Uwe Schlattner, Ramin Homayouni, et al. "The Creatine Kinase/Creatine Connection to Alzheimer's Disease: CK Inactivation, APP-CK Complexes and Focal Creatine Deposits." Journal of Biomedicine and Biotechnology 2006 (2006): 1–11. http://dx.doi.org/10.1155/jbb/2006/35936.

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Cytosolic brain-type creatine kinase (BB-CK), which is coexpressed with ubiquitous mitochondrial uMtCK, is significantly inactivated by oxidation, in Alzheimer's disease (AD) patients. Since CK has been shown to play a fundamental role in cellular energetics of the brain, any disturbance of this enzyme may exasperate the AD disease process. Mutations in amyloid precursor protein (APP) are associated with early onset AD and result in abnormal processing of APP, and accumulation of Aβpeptide, the main constituent of amyloid plaques in AD brain. Recent data on a direct interaction between APP and

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Bartelsen, F. M., W. Rehpenning, K. Harm, M. Runge, and D. G. Mathey. "Kinetics of serum creatine kinase and creatine kinase-MB after intracoronary thrombolysis." Klinische Wochenschrift 63, no. 11 (1985): 499–504. http://dx.doi.org/10.1007/bf01747979.

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27

Meltzer, H. Y., E. Dorus, L. Grunhaus, J. M. Davis, and R. Belmaker. "Genetic control of human plasma creatine phosphokinase activity." Clinical Genetics 13, no. 4 (2008): 321–26. http://dx.doi.org/10.1111/j.1399-0004.1978.tb01187.x.

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28

Goedde, H. W., I. Christ, H. G. Benkmann, R. Beckmann, and H. Lang. "Creatine kinase* isoenzyme patterns in Duchenne muscular dystrophy." Clinical Genetics 14, no. 5 (2008): 257–60. http://dx.doi.org/10.1111/j.1399-0004.1978.tb02143.x.

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29

Fons, C., A. Arias, A. Sempere, et al. "Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency." Molecular Genetics and Metabolism 99, no. 3 (2010): 296–99. http://dx.doi.org/10.1016/j.ymgme.2009.10.186.

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30

Dionne, F. T., L. Turcotte, J. Grondin, M. C. Thibault, and C. Bouchard. "NcolRFLP in human brain creatine kinase gene (CKBB)." Nucleic Acids Research 19, no. 1 (1991): 195. http://dx.doi.org/10.1093/nar/19.1.195-a.

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31

Grant, Madeline S., Matt D. Miesner, and Evan C. Titgemeyer. "208 Effects of supplemental guanidinoacetic acid, creatine, and choline on protein deposition and methyl group metabolites in growing steers." Journal of Animal Science 98, Supplement_4 (2020): 147. http://dx.doi.org/10.1093/jas/skaa278.268.

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Abstract Methyl group donors (e.g., methionine, choline) can improve performance in transition dairy cows. Our objective was to determine how modulation of methyl group status would affect protein deposition and plasma and urine metabolites associated with methyl group metabolism. Six ruminally cannulated Holstein steers (200 kg) were used in a 6×6 Latin square design with 10-d periods. Factorial treatments, which were continuously infused abomasally, included 3 methyl group modulators (MGM: control; 15 g/d guanidinoacetic acid [GAA]; or 16.8 g/d creatine) and 2 levels of choline (0 or 5 g/d c

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32

Dahlstedt, Anders J., Abram Katz, Bé Wieringa, and Håkan Westerblad. "Is creatine kinase responsible for fatigue? Studies of isolated skeletal muscle deficient in creatine kinase." FASEB Journal 14, no. 7 (2000): 982–90. http://dx.doi.org/10.1096/fasebj.14.7.982.

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33

Dunham, Tyler, Jensen Murphy, Kaitlyn Colonna, et al. "The Effect of Creatine Monohydrate Supplementation on Tissue Creatine Concentrations in Male and Female Rats." FASEB Journal 34, S1 (2020): 1. http://dx.doi.org/10.1096/fasebj.2020.34.s1.04833.

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34

Crozatier, Bertrand, Thierry Badoual, Ernest Boehm, et al. "Role of creatine kinase in cardiac excitation‐contraction coupling: studies in creatine kinase‐deficient mice." FASEB Journal 16, no. 7 (2002): 653–60. http://dx.doi.org/10.1096/fj.01-0652com.

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35

Almeida, Lı́gia S., Nanda M. Verhoeven, Birthe Roos, et al. "Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport." Molecular Genetics and Metabolism 82, no. 3 (2004): 214–19. http://dx.doi.org/10.1016/j.ymgme.2004.05.001.

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36

van de Kamp, Jiddeke M., Grazia M. Mancini, and Gajja S. Salomons. "X-linked creatine transporter deficiency: clinical aspects and pathophysiology." Journal of Inherited Metabolic Disease 37, no. 5 (2014): 715–33. http://dx.doi.org/10.1007/s10545-014-9713-8.

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37

Verhoeven, N. M., W. S. Guérand, E. A. Struys, A. A. Bouman, M. S. van der Knaap, and C. Jakobs. "Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall." Journal of Inherited Metabolic Disease 23, no. 8 (2000): 835–40. http://dx.doi.org/10.1023/a:1026764703486.

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38

Schedel, Jean-Marc, Hiroaki Tanaka, Akira Kiyonaga, Munehiro Shindo, and Yves Schutz. "Acute creatine ingestion in human: Consequences on serum creatine and creatinine concentrations." Life Sciences 65, no. 23 (1999): 2463–70. http://dx.doi.org/10.1016/s0024-3205(99)00512-3.

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39

Naseem, Nadia, Saqib Mahmood, Afzal Hussain, et al. "MUSCULAR DYSTROPHIES." Professional Medical Journal 23, no. 09 (2016): 1110–17. http://dx.doi.org/10.29309/tpmj/2016.23.09.1707.

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Objectives: Muscular dystrophies are classified into different types based ontheir age of onset, clinical severity, rate of progression, distribution of muscles weakness,pattern of inheritance and the genes involved. As muscular dystrophies are relativelyuncommon disorders, very little work has been done in Pakistan. This study has classified (forthe first time in Pakistan) the patients with different types of muscular dystrophies by clinicaland biochemical correlation. Study Design: Observational, descriptive study. Setting:Departments of Morbid Anatomy and Histopathology and Human Genetics a

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40

Ellery, Stacey J., Padma Murthi, Miranda L. Davies-Tuck, et al. "Placental creatine metabolism in cases of placental insufficiency and reduced fetal growth." Molecular Human Reproduction 25, no. 8 (2019): 495–505. http://dx.doi.org/10.1093/molehr/gaz039.

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Abstract Creatine is a metabolite involved in cellular energy homeostasis. In this study, we examined placental creatine content, and expression of the enzymes required for creatine synthesis, transport and the creatine kinase reaction, in pregnancies complicated by low birthweight. We studied first trimester chorionic villus biopsies (CVBs) of small for gestational age (SGA) and appropriately grown infants (AGA), along with third trimester placental samples from fetal growth restricted (FGR) and healthy gestation-matched controls. Placental creatine and creatine precursor (guanidinoacetate—GA

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POVEY, SUSAN, MARY INWOOD, ALISON TANYAR, and MARTIN BOBROW. "The expression of creatine kinase isozymes in human cultured cells." Annals of Human Genetics 43, no. 1 (2007): 15–26. http://dx.doi.org/10.1111/j.1469-1809.1979.tb01545.x.

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Sempere, A., C. Fons, A. Arias, et al. "Creatine transporter deficiency in two adult patients with static encephalopathy." Journal of Inherited Metabolic Disease 32, S1 (2009): 91–96. http://dx.doi.org/10.1007/s10545-009-1083-2.

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AxnÉr, Eva, Budhan S. Pukazhenthi, David E. Wildt, Catharina Linde-Forsberg, and Rebecca E. Spindler. "Creatine phosphokinase in domestic cat epididymal spermatozoa*." Molecular Reproduction and Development 62, no. 2 (2002): 265–70. http://dx.doi.org/10.1002/mrd.10070.

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44

Wang, Xi-Cheng, Ju-Qun Ye, Hong-Rui Wang, and Hai-Meng Zhou. "Cytoplasmic creatine kinases from giant pandas." IUBMB Life 43, no. 6 (1997): 1285–95. http://dx.doi.org/10.1080/15216549700205111.

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Daling, Shi. "Oligosaccharide and creatine supplementation on glucose and urea nitrogen in blood and serum creatine kinase in basketball athletes." Journal of Huazhong University of Science and Technology [Medical Sciences] 25, no. 5 (2005): 587–89. http://dx.doi.org/10.1007/bf02896026.

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Mariman, Edwin C. M., Jan T. G. Schepens, and Bé Wieringa. "Complete nucleotide sequence of the human creatine kinase B gene." Nucleic Acids Research 17, no. 15 (1989): 6385. http://dx.doi.org/10.1093/nar/17.15.6385.

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47

Perryman, M. Benjamin, J. Fielding Hejtmancik, Tetsuo Ashizawa, et al. "NcoI and TaqI RFLPs for human M creatine kinase (CKM)." Nucleic Acids Research 16, no. 17 (1988): 8744. http://dx.doi.org/10.1093/nar/16.17.8744.

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48

Mariman, E. C. M., C. A. M. Broers, C. A. A. Claesen, G. I. Tesser, and B. Wieringa. "Structure and expression of the human creatine kinase B gene." Genomics 1, no. 2 (1987): 126–37. http://dx.doi.org/10.1016/0888-7543(87)90004-8.

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49

Wolosker, Herman, Rogério Panizzutti, and Simone Engelender. "Inhibition of creatine kinase byS-nitrosoglutathione." FEBS Letters 392, no. 3 (1996): 274–76. http://dx.doi.org/10.1016/0014-5793(96)00829-0.

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50

Stromberger, C., O. A. Bodamer, and S. Stöckler-Ipsiroglu. "Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism." Journal of Inherited Metabolic Disease 26, no. 2-3 (2003): 299–308. http://dx.doi.org/10.1023/a:1024453704800.

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