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5,378 Possible Causes for 1C,, ASN463ASP, CONGENITAL,, DYSTROPHY,, MUSCULAR

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  • Isoproterenol

    Other subgroups included patients with (group 1B) or without (group 1C) consistent non-PV atrial foci that did not induce AF.[] Abstract Ebstein's anomaly is a rare congenital cardiac anomaly showing significant clinical manifestations with a high mortality rate in the neonatal period.[] , Animal/complications* Muscular Dystrophy, Animal/pathology Muscular Dystrophy, Duchenne/complications* Muscular Dystrophy, Duchenne/pathology Peptides/pharmacology Peptides[] Furthermore, the success rate was statistically different between group 1A (25/32, 78%), group 1B (28/83, 34%), and group 1C (57/74, 74%), P 0.001.[] Dystrophy, Animal/complications* Muscular Dystrophy, Animal/pathology Muscular Dystrophy, Duchenne/complications* Muscular Dystrophy, Duchenne/pathology Peptides/pharmacology[]

    Missing: ASN463ASP
  • Congenital Muscular Dystrophy

    […] is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C[] Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases .[] Abstract Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy type 1C, and congenital muscular dystrophy[] […] defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C[] Congenital Muscular Dystrophy, Congenital Myopathy and Congenital Myasthenic Syndrome The Congenital Muscle Disease International Registry (CMDIR) was created in 2009 to identify[]

    Missing: ASN463ASP
  • Low Protein Diet

    Weighted mean differences (WMD) were calculated for the change in GFR or CCR, glycated hemoglobin (HbA(1c)), and serum albumin between the LPD and control groups.[] KEYWORDS: Bethlem myopathy; Ullrich congenital muscular dystrophy; autophagy; clinical trial; collagen VI; low-protein diet; muscular dystrophies[] BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disorder characterized by abdominal obesity, mental retardation, dysmorphic extremities, retinal dystrophy[] Abstract Gyrate atrophy of the choroid and retina is an autosomal recessive chorioretinal dystrophy which leads to a slowly progressive loss of vision.[] RESULTS: Overall, a change in WMD for GFR or CCR was not significantly associated with an LPD, but a decrease in WMD for HbA(1c) was significant in the LPD group (P 0.005)[]

    Missing: ASN463ASP
  • Antibiotic

    Bacteria swim and spread until they reach a concentration in which they can no longer grow (TMP, Fig. 1C and movies S1 and S2; CPR, movie S3).[] (present from birth) heart disease: b unrepaired cyanotic congenital heart disease, including palliative shunts and conduits any repaired congenital heart defect with residual[] Even a short course of a pivalate-containing antibiotic can lead to life-threatening hypocarnitinemia in older children with severe muscular dystrophy.[] […] limited to healthy adults without chronic lung disease (such as cystic fibrosis, bronchiectasis, and chronic obstructive pulmonary disease) or immunocompromising conditions (congenital[] As resistant mutants arise in the population, their descendants migrate into the next step of drug concentration and fan out ( Fig. 1C , 88 hours).[]

    Missing: ASN463ASP
  • Carnitine

    Abstract Carnitine palmitoyltransferase 1C (CPT1C), an enzyme located in the outer mitochondria membrane, has a crucial role in fatty acid transport and oxidation.[] PATIENTS: Arterial blood samples from 18 patients with congenital heart disease associated with increased pulmonary blood flow (ventricular septal defect), 20 with congenital[] Even a short course of a pivalate-containing antibiotic can lead to life-threatening hypocarnitinemia in older children with severe muscular dystrophy.[] Congenital dysfunction of this transporter causes primary l-carnitine deficiency.[] However, potential alterations in these parameters in patients with congenital heart disease have not been investigated.[]

    Missing: ASN463ASP
  • Myocardial Fibrosis

    CONCLUSIONS: Traditional CVD risk factors and elevated HbA 1c levels are major factors related to early cardiac dysfunction in type 1 diabetes.[] Abstract Myocardial fibrosis is common in patients with congenital heart disease (CHD) and has been associated with arrhythmias, decreased functional status, and adverse ventricular[] Abstract We report on a 38- year-old man with Becker-Kiener muscular dystrophy (BMD) and dilated cardiomyopathy without clinical symptoms of congestive heart failure who was[] [email protected] 2 Department of Congenital Heart Disease and Pediatric Cardiology, Deutsches Herzzentrum München, Technische Universität München, Munich, Germany[] This case showed progressive muscular dystrophy and central nervous system malformation, accompanied by severe myocardial fibrosis.[]

    Missing: ASN463ASP
  • Depression

    RESULTS: 339 patients [51.6% male; 38.5   12.9 years; HbA 1c 7.5   1.1% (58.5   14.2 mmol/mol); 20.1   12.0 years of DM1] met the inclusion criteria.[] Abstract Congenital depression of the fetal skull is a rare condition.[] Our results suggest that increasing muscular strength may prevent depression in Korean adults.[] At least some cases of congenital third cranial nerve palsy may fall in the realm of congenital cranial dysinnervation disorders (CCDDs) sharing a much wider spectrum of presentation[] There is no study of relationship between muscular strength and depression using national data from young adults to seniors.[]

    Missing: ASN463ASP DYSTROPHY
  • Hypogonadotropic Hypogonadism

    However, testosterone therapy does not consistently affect HbA 1c in men with diabetes.[] Abstract The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH[] Abstract The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher-Neuhäuser syndrome (BNS[] Males exhibit a lack of muscular development and failure of the voice to deepen, whereas females typically exhibit minimal to a complete lack of breast development coupled[] Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy.[]

    Missing: ASN463ASP
  • Limb-Girdle Muscular Dystrophy

    LGMD 1C (caveolin 3) Childhood - adult Rippling muscle disease (see 'Presentation' section). Cramps and myalgia after exercise are common.[] Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD)[] Abstract Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy,[] KEYWORDS: Congenital myasthenic syndrome; GMPPB; Limb girdle muscular dystrophy; Muscle MRI; Mutation hotspot[] […] fukutin related protein (FKRP) gene mutations generate a wide range of pathologies from mild limb girdle muscular dystrophy 2I (LGMD2I), severe congenital muscular dystrophy 1C[]

    Missing: ASN463ASP
  • Spinal Muscular Atrophy

    Electronic address: [email protected] 2 SMA-Trust, 1c Atherstone Barns, Atherstone on Stour, Warwickshire CV37 8NE, United Kingdom. 3 Vereniging Spierziekten Nederland[] KEYWORDS: arthrogryposis; congenital spinal muscular atrophies; infant[] Neuromuscular disorders like myotonic dystrophy (dystrophia myotonica or Steinert's disease) and spinal muscular atrophy are associated with perioperative complications related[] Spinal muscular atrophy is a genetic disorder characterized by progressive muscular weakness.[] In another child with congenital dSMA, in this case associated with bone abnormalities, we detected a previously reported mutation (p.R232C).[]

    Missing: ASN463ASP

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