Browse Items (10 total)
- Tags: Muscle
Sleep disordered breathing in spinal muscular atrophy
Tags: 2004, breathing difficulties, Child, Cyclic AMP, Disease Progression, disordered breathing, Dohna-Schwake C, Female, Humans, Male, Mellies U, Muscle, Neuromuscular Disorders, non-invasive positive pressure ventilation, physical intervention, Response Element-Binding Protein, Skeletal/pa [Pathology] Muscle, SMA1, Stehling F V T
Benefits of Early Referral to Pediatric Palliative Care for a Child With a Rare Disease
Tags: 2018, August 2018 List, Child, Clinical, Connective Tissue Diseases Diagnosis, Connective Tissue Diseases Familial and Genetic In Infancy and Childhood, Connective Tissue Diseases Symptoms, Connective Tissue Diseases Therapy In Infancy and Childhood, Decision Making, Dyspnea Drug Therapy, Face Pathology, Family Education, Fibrosis, Health Education, Intellectual Disability, Intensive Care Units, Male, McHardy M, Morphine Therapeutic Use, Muscle, Mutation, Pain Management, Palliative Care, Parental Attitudes, Pediatric, Pediatric Care, Pediatrics, Referral And Consultation, Skeletal Abnormalities, Vadeboncoeur C
Proteolytic and lipolytic responses to starvation
Tags: 2006, Acyl Coenzyme A/metabolism, Autophagy, Backlog, Dice JF, Enzyme Activation, Fatty Acids, Finn PF, Humans, Journal Article, Ketone Bodies/metabolism, Lipolysis, Lysosomes/metabolism, Molecular Chaperones/physiology, Muscle, Muscle Proteins/metabolism, Nonesterified/metabolism, Nutrition (burbank, Los Angeles County, Calif.), Peptide Hydrolases/metabolism, Proteasome Endopeptidase Complex/metabolism, Skeletal/chemistry, Starvation/metabolism, Triglycerides/metabolism, Ubiquitin/metabolism
Molecular pathways leading to cancer cachexia
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
Tags: 2005, Akman HO, Backlog, Bonilla E, Cytochrome-c Oxidase Deficiency/complications/genetics/pathology, De Vivo DC, DiMauro S, DNA Mutational Analysis, Female, Frameshift Mutation, Humans, Infant, Journal Article, Journal of Child Neurology, Kidney Diseases/etiology, Leigh Disease/complications/genetics/pathology, Male, Membrane Proteins, Mitochondrial Proteins, Morales A, Morales JF, Muscle, Newborn, Phenotype, Proteins/genetics, Q3 Scoping Review Results, Sacconi S, Shanske S, Skeletal/pathology, Tay SK
Disease severity in children and adults with Pompe disease related to age and disease duration
Tags: 2005, 80 And Over, Activities of Daily Living, Adolescent, Adult, Age Factors, Age of Onset, Aged, Artificial/statistics & numerical data, Backlog, Child, Cross-sectional Studies, Disease Progression, Female, Glycogen Storage Disease Type II/diagnosis/epidemiology/physiopathology, Hagemans ML, Hop WC, Humans, Infant, Journal Article, Male, Middle Aged, Muscle, Neurology, Newborn, Preschool, Q3 Scoping Review Results, Questionnaires, Respiration, Respiratory Insufficiency/epidemiology/etiology/therapy, Reuser AJ, Severity Of Illness Index, Skeletal/physiopathology, Van der Ploeg AT, Van Doorn PA, Wheelchairs/statistics & numerical data, Winkel LP
Prevalence and progression of mitochondrial diseases: a study of 50 patients
Tags: 2003, Adolescent, Adult, Age of Onset, Aged, Arenas J, Arpa J, Arpa-Fernandez A, Backlog, Campos Y, Chronic Progressive External/ep [Epidemiology], Chronic Progressive External/ge [Genetics], Chronic Progressive External/pa [Pathology], Cruz-Martinez A, Del Hoyo P, Disease Progression, DNA, Electromyography, Epilepsies, Female, Garcia-Rio F, Gutierrez-Molina M, Humans, IM, Journal Article, Lactic Acid/bl [Blood], Male, Martin MA, MELAS Syndrome/ep [Epidemiology], MELAS Syndrome/ge [Genetics], MELAS Syndrome/pa [Pathology], Middle Aged, Mitochondrial Diseases/ep [Epidemiology], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/pa [Pathology], Mitochondrial/ge [Genetics], Muscle, Muscle & Nerve, Myoclonic/ep [Epidemiology], Myoclonic/ge [Genetics], Myoclonic/pa [Pathology], Neural Conduction/ph [Physiology], Ophthalmoplegia, Perez-Conde C, Phenotype, Rubio JC, Skeletal/pa [Pathology], Spain/ep [Epidemiology], Survival Analysis
Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies
Tags: 2002, Adolescent, Adult, Backlog, Child, Chu CC, DNA, Female, Huang CC, Humans, Journal Article, Journal Of Biomedical Science, Kuo HC, Liou CW, Ma YS, Male, Mitochondrial Encephalomyopathies/diagnosis/etiology/genetics, Mitochondrial/genetics, Muscle, Mutation, Prognosis, Q3 Scoping Review Results, Skeletal/pathology, Wei YH
Electrogastrography in gastrostomy-tube-fed children
Tags: 1999, Backlog, Brown CW, Child, Computer-Assisted, Digestive Diseases And Sciences, Electrodiagnosis, Enteral Nutrition, Female, Gastric Emptying/physiology, Gastrostomy, Heikenen JB, Humans, Infant, Journal Article, Male, Muscle, Postoperative Complications/physiopathology, Postprandial Period/physiology, Preschool, Q3 Scoping Review Results, Signal Processing, Smooth/physiopathology, Vomiting/physiopathology, Werlin SL