Hb M Hyde Park disease was detected in a girl who for several years was thought to have cyanotic heart disease. The problems of recognizing the condition are outlined and clues to diagnosis are discussed. Evidence for heme loss from the aberrant beta chains of Hb M Hyde Park and production of an unstable molecule is presented. The normal haematological findings in the patient's parents, as well as their blood groups and isozymes, suggest that the occurrence of her Hb M Hyde Park was the result of a fresh mutation.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1013374 | PMC |
| http://dx.doi.org/10.1136/jmg.13.2.142 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Early High-Frequency Oscillatory Ventilation in Pediatric Acute Respiratory Failure. A Propensity Score Analysis.
Am J Respir Crit Care Med
March 2016
10 Department of Cardiovascular and Critical Care Services, Boston Children's Hospital, Boston, Massachusetts.
Rationale: The use of high-frequency oscillatory ventilation (HFOV) for acute respiratory failure in children is prevalent despite the lack of efficacy data.
Objectives: To compare the outcomes of patients with acute respiratory failure managed with HFOV within 24-48 hours of endotracheal intubation with those receiving conventional mechanical ventilation (CMV) and/or late HFOV.
Methods: This is a secondary analysis of data from the RESTORE (Randomized Evaluation of Sedation Titration for Respiratory Failure) study, a prospective cluster randomized clinical trial conducted between 2009 and 2013 in 31 U.
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Ann Neurol
March 2012
Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Objective: Genome-wide association (GWAS) methods have identified genes contributing to Parkinson's disease (PD); we sought to identify additional genes associated with PD susceptibility.
Methods: A 2-stage design was used. First, individual level genotypic data from 5 recent PD GWAS (Discovery Sample: 4,238 PD cases and 4,239 controls) were combined.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!