Browse Items (12 total)
- Tags: American Journal Of Medical Genetics
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials
Tags: 1995, achondroplasia, Achondroplasia/co [Complications], adenotonsillectomy, Adolescent, Adult Child, American Journal Of Medical Genetics, breathing difficulties, Child, CPAP, Everett F, Evoked Potentials, Fagan E R, Female, Humans, Infant, losing weight, Male, Middle Aged, physical interventions, Preschool, Respiration, respiratory disturbance index, Sillence D O, Sleep Apnea Syndromes/et [Etiology], Sleep Apnea Syndromes/th [Therapy], Sullivan C E, surgical interventions, Tonsillectomy, Waters K A, Weight Loss
Follow-up on seven adult patients with mild Sanfilippo B-disease.
Tags: 1987, Adult, Age Factors, American Journal Of Medical Genetics, Backlog, Dementia/complications/genetics, Female, Follow-up Studies, Humans, Journal Article, Longitudinal Studies, Male, Mental Retardation/complications/genetics, Mucopolysaccharidoses/genetics, Mucopolysaccharidosis III/genetics, Pedigree, van de Kamp JJ, van Schrojenstein-de Valk HM
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature
Tags: 2001, American Journal Of Medical Genetics, Backlog, Cells, Child, Contracture/pathology, Cultured, Eich G, Fibroblasts/metabolism, Humans, Hyaluronic Acid/metabolism, Hyaluronoglucosaminidase/blood, Joint Diseases/blood/congenital/radiography, Journal Article, Male, Non-U.S. Gov't, Osteolysis/congenital, Preschool, Proteoglycans/metabolism, Research Support, Rossi A, Sacher P, Skin Diseases/blood/congenital/radiography, Spycher MA, Steinmann B, Stucki U, Superti-Furga A
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
Tags: 2002, American Journal Of Medical Genetics, Backlog, DNA Mutational Analysis, DNA/chemistry/genetics, Endopeptidases, Goebel HH, Heim P, Journal Article, Kohlschutter A, Longitudinal Studies, Meyer K, Mutation, Neuronal Ceroid-Lipofuscinoses/genetics/pathology/physiopathology, Peptide Hydrolases/genetics/metabolism, Psychomotor Performance/physiology, Seizures/physiopathology, Severity Of Illness Index, Steinfeld R, Ullrich K, Vision/physiology, von Gregory H
Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome
Tags: 1993, Adolescent, Adult, American Journal Of Medical Genetics, Backlog, Child, De Lange Syndrome/complications, Esophagitis/complications/prevention & control, Gastroesophageal Reflux/complications, Humans, Infant, Journal Article, Posture, Sommer A, Spasm/complications, Torticollis/complications
Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome
Tags: 1993, Adolescent, Adult, American Journal Of Medical Genetics, characteristics, Child, De Lange syndrome, De Lange Syndrome/co [Complications], De Lange Syndrome/complications, Esophagitis/co [Complications], Esophagitis/complications/prevention & control, Esophagitis/pc [Prevention & Control], feeding difficulties, Gastroesophageal Reflux, Gastroesophageal Reflux/co [Complications], Gastroesophageal Reflux/complications, GERD, Humans, Infant, NET Files, Posture, Sandifer complex, Sommer A, Spasm/co [Complications], Spasm/complications, Torticollis/co [Complications], Torticollis/complications, Trajectory
Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients.
Tags: 1995, Adolescent, Adult, Age of Onset, American Journal Of Medical Genetics, Angelini L, Atrophy, Backlog, Binelli S, Brain/pathology/radiography, Bugiani O, Cerebellum/pathology, Child, Female, Follow-up Studies, Humans, Infant, Journal Article, Longitudinal Studies, Magnetic Resonance Imaging, Male, Nardocci N, Neuronal Ceroid-Lipofuscinoses/diagnosis/physiopathology, Preschool, Time Factors, Tomography, Verga ML, X-Ray Computed, Zorzi G
Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents
CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)
Tags: 1995, Alila A, American Journal Of Medical Genetics, body temperature, characteristics, Children, circadian rhythms, cortisol, disturbance, Genetics & Heredity, Hatonen T H, Heikkila E, Heiskala H, Laakso M L, melatonin, mental handicap, Motor Activity, NCL3, neuronal ceroid lipofuscinosis, Radioimmunoassay, retina, Salmi T, Santavuori P, Sleep, sleep disturbance/disorders, Telakivi T, Trajectory
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
Tags: 1991, achondroplasia, Achondroplasia/complications/physiopathology/psychology, American Journal Of Medical Genetics, Atrophy, Brain/pathology, characteristics, Child Preschool, Electroencephalography, Evoked Potentials Somatosensory, Female, Hecht J T, Horton W A, Humans, Infant, Intellectual Disability/etiology, Intelligence, Male, Neuropsychological Tests, Patchell L, Prospective Studies, Psychomotor Performance, Respiration Disorders/etiology/physiopathology, respiratory dysfunction, Sleep Apnea Syndromes/etiology/physiopathology, sleep disturbance, Thompson N M, tone and motor problems, Trajectory, Weir T
Sixty-four patients with Brachmann-de Lange syndrome: a survey
Tags: 1985, American Journal Of Medical Genetics, behavioral problems, Birth Weight, breathing difficulties, characteristics, Child, De Lange syndrome, De Lange Syndrome/etiology/genetics/physiopathology, feeding difficulties, Female, Hawley P P, Humans, Jackson L G, Kurnit D M, Male, Psychomotor Performance, respiratory tract symptoms, Surveys And Questionnaires, Trajectory
Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease).
Tags: 1988, Adolescent, American Journal Of Medical Genetics, Backlog, Bennett MJ, Cartwright IJ, Corn Oil/therapeutic use, Dietary Fats, Fish Oils/therapeutic use, Follow-up Studies, Galloway JH, Gayton R, Hosking GP, Humans, Journal Article, Lipid Metabolism, Lipoproteins/blood, Longitudinal Studies, Neuronal Ceroid-Lipofuscinoses/diet therapy/drug therapy/therapy, Thompson G