45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Molecular Genetics and Metabolism

Volumn 103, Issue 4, 2011, Pages 338-340

  Lam, Christina ^a,b   Desviat, Lourdes R ^c   Perez Cerdá, Celia ^c   Ugarte, Magdalena ^c   Barshop, Bruce A ^d   Cederbaum, Stephen ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

Electron transport chain; Methylmalonic acidemia; Mitochondrial dysfunction; Premature ovarian failure; Propionic acidemia; Renal failure

Indexed keywords

ACYLCARNITINE; CREATININE; FOLLITROPIN; LEVOTHYROXINE; LUTEINIZING HORMONE; NONSTEROID ANTIINFLAMMATORY AGENT; PROPIONIC ACID; PROPIONYL COENZYME A CARBOXYLASE; SUMATRIPTAN;

ADULT; ALLERGIC RHINITIS; APPENDICITIS; ARTICLE; BLOOD SAMPLING; CASE REPORT; CREATININE BLOOD LEVEL; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA ISOLATION; EARLY MENOPAUSE; ELECTRON TRANSPORT; FAMILY HISTORY; FEMALE; GENE MUTATION; HEARING LOSS; HUMAN; HYPERTENSION; HYPOTHYROIDISM; IRRITABLE COLON; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; METABOLITE; MIGRAINE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN RESTRICTION; URINALYSIS;

FEMALE; HUMANS; KIDNEY TRANSPLANTATION; PRIMARY OVARIAN INSUFFICIENCY; PROPIONIC ACIDEMIA; PROPIONIC ACIDS; RENAL INSUFFICIENCY;

EID: 79960891140     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.04.007     Document Type: Article

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