Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: Underdiagnosis or loss of affected fetuses?

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Jezela Stanek, Aleksandra ^a   Ciara, Elzbieta ^a   Małunowicz, Ewa ^a   Chrzanowska, Krystyna ^a   Latos Bieleńska, Anna ^b   Krajewska Walasek, Małgorzata ^a   Gajdulewicz, Maria ^a   Spodar, Krystyna ^a   Materna Kiryluk, Anna ^b   Wolnik Brzozowska, Danuta ^b   Pyrkosz, Antoni ^c   Obersztyn, Ewa ^d   Wierzba, Jolanta ^e   Śmigiel, Robert ^f   Kostuch, Marzena ^f   Dudarewicz, Lech ^g   Pasińska, Magdalena ^h   Socha, Piotr ^a   Dobrzańska, Anna ^a   Pleskaczyńska, Agata ^a   Michalska, Tamara ⁱ   Kutkowska Kaźmierczak, Anna ^d   Walencka, Zofia ^c   Madej, Jolanta ^j   Orczyk, Marta ^k   Glazar, Renata ^b   Przybylski, Piotr ^l   Korniszewski, Lech ^m   Zaremba, Jacek ⁿ   Popowska, Ewa ^a   Wielgos, Mirosław ^o   Bablok, Leszek ^o   more..

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c MEDICAL UNIVERSITY OF SILESIA   (Poland)

^d INSTITUTE OF MOTHER AND CHILD   (Poland)

^e MEDICAL UNIVERSITY OF GDANSK   (Poland)

^f MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^g POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

^h NICOLAUS COPERNICUS UNIVERSITY   (Poland)

ⁱ MEDICAL UNIVERSITY OF LODZ   (Poland)

^j Provincial Hospital Rzeszow   (Poland)

^k UNIVERSITY HOSPITAL IN KRAKOW   (Poland)

^l WARSAW UNIVERSITY OF TECHNOLOGY   (Poland)

^m INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

ⁿ INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^o MEDICAL UNIVERSITY OF WARSAW   (Poland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; 7-DEHYDROCHOLESTEROL; BIOLOGICAL MARKER;

AMNION FLUID; CHEMISTRY; CHORION VILLUS; ENZYMOLOGY; FEMALE; FETUS DEATH; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; INCIDENCE; LIVE BIRTH; MASS FRAGMENTOGRAPHY; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLAND; PREDICTIVE VALUE; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE; PROCEDURES; PROSPECTIVE STUDY; SMITH-LEMLI-OPITZ SYNDROME; TIME; ARTICLE; METHODOLOGY; SMITH LEMLI OPITZ SYNDROME;

AMNIOTIC FLUID; BIOLOGICAL MARKERS; CHORIONIC VILLI; DEHYDROCHOLESTEROLS; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DEATH; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INCIDENCE; INFANT, NEWBORN; LIVE BIRTH; MUTATION; NEONATAL SCREENING; PHENOTYPE; POLAND; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE; PROSPECTIVE STUDIES; SMITH-LEMLI-OPITZ SYNDROME; TIME FACTORS;

EID: 84897956041     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9132-4     Document Type: Article

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