Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

Genetics in Medicine

Volumn 12, Issue 1, 2010, Pages 19-24

  El Hattab, Ayman W ^a   Li, Fang Yuan ^a   Shen, Joseph ^b   Powell, Berkley R ^b   Bawle, Erawati V ^c   Adams, Darius J ^d   Wahl, Erica ^d   Kobori, Joyce A ^e   Graham, Brett ^a   Scaglia, Fernando ^a   Wong, Lee Jun ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^c CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^d ALBANY MEDICAL CENTER   (United States)

^e KAISER PERMANENTE MEDICAL CENTER   (United States)

Author keywords

Carnitine transporter OCTN2; Low serum carnitine; Newborn screening; SLC22A5 gene; Systemic primary carnitine deficiency

Indexed keywords

CARNITINE; DNA; PRESTIN;

ARTICLE; BLOOD SAMPLING; CARNITINE DEFICIENCY; CHEMICAL ANALYSIS; CONTROLLED STUDY; DNA EXTRACTION; FATIGUE; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; MALE; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREECLAMPSIA; PREGNANCY; PROTEIN BLOOD LEVEL;

ADULT; CARNITINE; CHILD, PRESCHOOL; FAMILY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MASS SCREENING; MATERNAL-FETAL EXCHANGE; MUTATION; NEONATAL SCREENING; ORGANIC CATION TRANSPORT PROTEINS; PREGNANCY;

EID: 75649118189     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181c5e6f7     Document Type: Article

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