Case report: Birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia

Journal of Assisted Reproduction and Genetics

Volumn 28, Issue 3, 2011, Pages 211-216

  Alberola, Trinitat M ^a   Bautista Llácer, Rosa ^a   Vendrell, Xavier ^a   García Mengual, Elena ^b   Pardo, Merche ^a   Vila, Maria ^c   Calatayud, Carmen ^c  

^a Reproductive Genetics Unit   (Spain)

^b Reproductive Genetics Laboratory   (Spain)

^c Assisted Reproduction Medical Centre CREA   (Spain)

Author keywords

Molecular PGD; Monogenic disease; Preimplantation genetic diagnosis; Propionic acidemia

Indexed keywords

GLYCINE; GONADORELIN AGONIST; LIPID; PROPIONYL COENZYME A CARBOXYLASE; PROPIONYL COENZYME A CARBOXYLASE B; PROTEIN; RECOMBINANT FOLLITROPIN; THREONINE; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH; BLASTOMERE; CASE REPORT; ELECTROPHORESIS; EMBRYO; FEMALE INFERTILITY; FERTILIZATION IN VITRO; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC RISK; HETEROZYGOTE; HUMAN; INFANT; INTRACYTOPLASMIC SPERM INJECTION; MALE; METABOLIC DISORDER; MULTIPLEX POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; SYMPTOM; TWINS; ZYGOTE;

ADULT; FEMALE; HUMANS; MALE; METHYLMALONYL-COA DECARBOXYLASE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PREGNANCY; PREGNANCY OUTCOME; PREIMPLANTATION DIAGNOSIS; PROPIONIC ACIDEMIA; TWINS;

EID: 79958248291     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-010-9514-4     Document Type: Article

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