Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome

Molecular Medicine Reports

Volumn 3, Issue 2, 2010, Pages 223-226

  Walsh, David J ^a   Sills, Eric Scott ^a   Lambert, Deborah M ^b   Gregerse, Nils ^d   Malone, Fergal D ^c   Walsh, Anthony P H ^a  

^a Sims International Fertility Clinic   (Ireland)

^b Department of Paediatric Surgery   (Ireland)

^c UNIVERSITY COLLEGE DUBLIN   (Ireland)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Ethylmalonic encephalopathy; Hypoplastic left heart defect; Inherited disorder

Indexed keywords

ACETYLSALICYLIC ACID; ACYLCARNITINE; AMINO ACID; ASPARTIC ACID; BUTYRYL COENZYME A DEHYDROGENASE; CARBOXYLIC ACID; CHORIONIC GONADOTROPIN; COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; DIOXYGENASE; DNA; ETHYLMALONIC ACID; FATTY ACID; GONADOTROPIN; HEPARIN; IMMUNOGLOBULIN A; LACTIC ACID; MALONIC ACID; METFORMIN; METHIONINE; PREDNISOLONE; RECOMBINANT FOLLITROPIN; SULFUR DIOXYGENASE; THYROID ANTIBODY; THYROID PEROXIDASE ANTIBODY; UNCLASSIFIED DRUG;

ACIDURIA; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL INSEMINATION; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; BRAIN DISEASE; CASE REPORT; CODON; CONTROLLED STUDY; DISEASE COURSE; DNA ISOLATION; DYSTONIA; EMBRYO; ENZYME DEFICIENCY; ESTRADIOL BLOOD LEVEL; ETHE1 GENE; ETHYLMALONIC ENCEPHALOPATHY; EXON; FATTY ACID OXIDATION; FEMALE; FERTILIZATION IN VITRO; GAMETE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC RISK; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPOPLASTIC LEFT HEART SYNDROME; LACTATE BLOOD LEVEL; METABOLIC DISORDER; MOEBIUS SYNDROME; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; OVULATION INDUCTION; PATIENT CARE; POLYMERASE CHAIN REACTION; PREGNANCY; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PROGENY; PSYCHOMOTOR RETARDATION; QUADRIPLEGIA; REPRODUCTION; RESPIRATORY CHAIN; SEIZURE; SPECTROPHOTOMETRY; SPERM DONOR; TRANSVAGINAL ECHOGRAPHY; TREATMENT OUTCOME; URINE LEVEL;

EID: 77950794752     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr_000000243     Document Type: Article

References (10)

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