Arhiva autor

Livia Ognean

Latest posts by Livia Ognean (see all)

Articole semnate de acelasi autor in Revista Romana de Pediatrie:

SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 1, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

, , , , , and

ABSTRACT

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.

Keywords: Smith-Lemli-Opitz syndrome, infant, hypocholesterolemia

Full text | PDF

SINDROMUL SMITH-LEMLI-OPITZ. PREZENTARE DE CAZ

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 1, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

SINDROMUL SMITH-LEMLI-OPITZ. PREZENTARE DE CAZ

, , , , , and

REZUMAT

Sindromul Smith-Lemli-Opitz (SSLO) reprezintă o afecţiune cu transmitere autozomal-recesivă caracterizată prin multiple anomalii şi care se datorează anomaliilor în sinteza colesterolului. Autorii prezintă particularităţile diagnostice şi terapeutice la un sugar cu ambiguitate genitală.

Cuvinte cheie: sindromul Smith-Lemli-Opitz, sugar, hipocolesterolemie

Full text | PDF