SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and limitation of treatment options in a 5-weeks old infant with ambiguous genitalia.
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Amaltea Medical Publishing House
2015-03-01
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| Series: | Romanian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.1/EN/RJP_2015_1_EN_Art-07.pdf |
| _version_ | 1819128367255912448 |
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| author | Sorin Ioan Iurian Livia Ognean Han Brunner Leo Kluijtmans Petr Jira Dana Fintina Bogdan Ionut Mehedintu |
| author_facet | Sorin Ioan Iurian Livia Ognean Han Brunner Leo Kluijtmans Petr Jira Dana Fintina Bogdan Ionut Mehedintu |
| author_sort | Sorin Ioan Iurian |
| collection | DOAJ |
| description | Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple
anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and
limitation of treatment options in a 5-weeks old infant with ambiguous genitalia. |
| first_indexed | 2024-12-22T08:26:42Z |
| format | Article |
| id | doaj.art-ab4a932fb18a4761b844b5477342b4cf |
| institution | Directory Open Access Journal |
| issn | 1454-0398 2069-6175 |
| language | English |
| last_indexed | 2024-12-22T08:26:42Z |
| publishDate | 2015-03-01 |
| publisher | Amaltea Medical Publishing House |
| record_format | Article |
| series | Romanian Journal of Pediatrics |
| spelling | doaj.art-ab4a932fb18a4761b844b5477342b4cf2022-12-21T18:32:37ZengAmaltea Medical Publishing HouseRomanian Journal of Pediatrics1454-03982069-61752015-03-01641343710.37897/RJP.2015.1.7SMITH-LEMLI-OPITZ SYNDROME. CASE REPORTSorin Ioan Iurian0Livia Ognean1Han Brunner2Leo Kluijtmans3Petr Jira4Dana Fintina5Bogdan Ionut Mehedintu6”Lucian Blaga” University, Sibiu; Pediatric Clinic Hospital, SibiuNeonatology Clinic, Emergency Clinical Hospital, SibiuMedical Genetics Department, Radboud University, Nijmegen, The NederlandsTranslational Metabolic Laboratory, Nijmegen, The NederlandsJreoen Bosch Hospital, Pediatric Department, The NederlandsPediatric Clinic Hospital, SibiuPediatric Clinic Hospital, SibiuSmith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and limitation of treatment options in a 5-weeks old infant with ambiguous genitalia.https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.1/EN/RJP_2015_1_EN_Art-07.pdfsmith-lemli-opitz syndromeinfanthypocholesterolemia |
| spellingShingle | Sorin Ioan Iurian Livia Ognean Han Brunner Leo Kluijtmans Petr Jira Dana Fintina Bogdan Ionut Mehedintu SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT Romanian Journal of Pediatrics smith-lemli-opitz syndrome infant hypocholesterolemia |
| title | SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT |
| title_full | SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT |
| title_fullStr | SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT |
| title_full_unstemmed | SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT |
| title_short | SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT |
| title_sort | smith lemli opitz syndrome case report |
| topic | smith-lemli-opitz syndrome infant hypocholesterolemia |
| url | https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.1/EN/RJP_2015_1_EN_Art-07.pdf |
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