Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 695-699

  Jurecka, Agnieszka ^a,b   Golda, Adam ^c   Opoka Winiarska, Violetta ^d   Piotrowska, Ewa ^b   Tylki Szymańska, Anna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF GDA SK   (Poland)

^c MEDICAL UNIVERSITY OF SILESIA   (Poland)

^d MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

Acute heart failure; Cardiac valve disease; Chronic heart failure; Enzyme replacement therapy; Mitral insufficiency; Pulmonary hypertension

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; CARVEDILOL; CATECHOLAMINE; ENOXAPARIN; FUROSEMIDE; GALSULFASE; IRON; N ACETYLGALACTOSAMINE 4 SULFATASE; POTASSIUM; SPIRONOLACTONE;

ADULT; ANEMIA; ARTICLE; ASCITES; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; DYSPNEA; ELECTROCARDIOGRAPHY; ENZYME REPLACEMENT; FEMALE; HEART FAILURE; HOMOZYGOSITY; HOSPITALIZATION; HUMAN; INTENSIVE CARE; LEG EDEMA; MALNUTRITION; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; PHENOTYPE; PHYSICAL ACTIVITY; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SYMPTOM; TREATMENT RESPONSE;

ADULT; FATAL OUTCOME; FEMALE; GLYCOSAMINOGLYCANS; HEART FAILURE; HUMANS; LUMBOSACRAL REGION; MUCOPOLYSACCHARIDOSIS VI; PELVIS; PHENOTYPE;

EID: 82255179455     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.024     Document Type: Article

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