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Volumn 44, Issue 3, 2014, Pages 332-333
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Fresh frozen plasma as a source of cholesterol for newborn with smith-lemli-opitz syndrome associated with defective cholesterol synthesis
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Author keywords
[No Author keywords available]
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Indexed keywords
7 DEHYDROCHOLESTEROL REDUCTASE;
CHOLESTEROL;
FRESH FROZEN PLASMA;
OXIDOREDUCTASE;
UNCLASSIFIED DRUG;
7 DEHYDROCHOLESTEROL;
7-DEHYDROCHOLESTEROL REDUCTASE;
ARTICLE;
AUTOSOMAL RECESSIVE DISORDER;
CASE REPORT;
CAUCASIAN;
CHOLESTEROL BLOOD LEVEL;
CHOLESTEROL INTAKE;
CHOLESTEROL SYNTHESIS;
CLEFT PALATE;
CONGENITAL HEART DISEASE;
DHCR7 GENE;
DISEASE ASSOCIATION;
DISEASE SEVERITY;
ENZYME MECHANISM;
FACE DYSMORPHIA;
GENE;
GENE MUTATION;
HUMAN;
MALE;
MENTAL RETARDATION MALFORMATION SYNDROME;
NEWBORN;
PRIORITY JOURNAL;
SMITH LEMLI OPITZ SYNDROME;
SYNDACTYLY;
UROGENITAL TRACT MALFORMATION;
AMBIGUOUS GENITALIA;
CHROMOSOME ANALYSIS;
CLINICAL FEATURE;
DISORDERS OF CHOLESTEROL METABOLISM;
HYPOPLASIA;
MICROPENIS;
NONSENSE MUTATION;
POLYDACTYLY;
SCROTUM HYPOPLASIA;
SUPPLEMENTATION;
TOTAL PARENTERAL NUTRITION;
BLOOD;
FEMALE;
GENETICS;
SMITH-LEMLI-OPITZ SYNDROME;
YOUNG ADULT;
CHOLESTEROL;
FEMALE;
HUMANS;
INFANT, NEWBORN;
OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;
SMITH-LEMLI-OPITZ SYNDROME;
YOUNG ADULT;
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EID: 84906271652
PISSN: 00917370
EISSN: 15508080
Source Type: Journal
DOI: None Document Type: Article |
Times cited : (2)
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References (8)
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