[…] to see the full profile Clinical Trials Fabry Disease Registry Start of enrollment: 2001 Apr 01 Medical Monitor Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to Clinical Research Publications & Presentations [doximity.com]

Epidemiology Family history None in most cases Discordance noted in some monozygotic twins Female:Male ratio = 4:1 Some subject with APL do not have LMNB2 mutations Genetics Mutations Heterozygous Mutations: A407T; R215Q; Intron 1-6C-T; c.82G-A May be present [neuromuscular.wustl.edu]

The latter may be present at birth but often appears at puberty ( Anderson et al., 1969 ).For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 ( OMIM ). [mendelian.co]

• Aggressive Behavior

  behavior Rare Symptoms - Less than 30% cases Downslanted palpebral fissures Hypertelorism Bulbous nose Posteriorly rotated ears Kyphosis Behavioral abnormality Upslanted palpebral fissure Coarse facial features Prominent nose Mandibular prognathia Pes [mendelian.co]

The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment. [books.google.com]

Children will be randomized into either a Treatment or Control group. The Treatment group will receive (in addition to standard referrals) neurocognitive habilitation and psychotherapy services as well as parent psychoeducation. [bioportfolio.com]

Metab.. 2015 Nov 08 Neutral endopeptidase-resistant C-type natriuretic Peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related d... Wendt, D. [doximity.com]

Uruguay Muscle features causing hypertrophy Common: Fat infiltration; Connective tissue proliferation Especially calf ± other muscles Muscle fiber hypertrophy Mass: Neoplasm or Focal myositis Infections Cysticercosis Trichinosis Schistosomiasis Drug treatment [neuromuscular.wustl.edu]

+ oral glucose; Dietary Supplement: SATIOSTAT treatment + oral glucose; Dietary Supplement: Control treatment + meal intake; Dietary Supplement: SATIOSTAT treatment + meal intake Sponsor : University Hospital, Basel, Switzerland Recruiting Condition [paidresearchstudies.org]

[…] medullary dysplasia; Overgrowth of external genitalia Cardiomyopathy : Occasional Laboratory Hypoglycemia External link: Gene Reviews Myhre Syndrome 8 ● Mothers against decapentaplegic, drosophila, homolog of, 4 (SMAD4) ; Chromosome 18q21.2; Dominant Epidemiology [neuromuscular.wustl.edu]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Dietary Supplement: phosphorus Sponsor : American University of Beirut Medical Center Recruiting Condition : Obesity Interventions : Dietary Supplement: Probiotic; Dietary Supplement: Placebo Sponsors : Poznan University of Medical Sciences; Department of Epidemiology [paidresearchstudies.org]

Assignment, Masking: Single Blind Conditions Fetal Alcohol Syndrome Intervention neurocognitive habilitation Location Children's Research Triangle Chicago Illinois United States 60601 Status Active, not recruiting Source Centers for Disease Control and Prevention [bioportfolio.com]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

Apple juice Sponsors : Appalachian State University; Roquette Freres Not yet recruiting Condition : Parkinson's Disease Interventions : Dietary Supplement: niacin; Other: placebo Sponsor : VA Office of Research and Development Recruiting Condition : Prevention [paidresearchstudies.org]

Disease; Obesity Intervention : Dietary Supplement: High-fat diet Sponsors : Loughborough University; Nottingham Trent University; Nottingham University Hospitals NHS Trust Recruiting Condition : Clostridium Difficile Intervention : Dietary Supplement: Prevention [paidclinicaltrials.org]