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Evelina Moraru

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

POSIBILITATI SI LIMITE DE TERAPIE INTR-UN CAZ DE HIPOCONDROPLAZIE LA COPIL

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

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.

POSIBILITATI SI LIMITE DE TERAPIE INTR-UN CAZ DE HIPOCONDROPLAZIE LA COPIL

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REZUMAT

Hipocondroplazia este o afecţiune genetică autozomal dominantă determinată de mutaţii ale genei receptorului 3 al factorului de creştere fibroblastică. Hipostatura dizarmonică are un impact negativ asupra calităţii vieţii, care poate fi ameliorat prin diagnostic precoce şi instituirea tratamentului cu hormon de creştere recombinant. Autorii prezintă cazul unei adolescente la care diagnosticul s-a precizat tardiv, motiv pentru care a pierdut şansa acestei terapii.

Cuvinte cheie: hipocondroplazie, hipostatură, hormon de creştere

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POSSIBILITIES AND LIMITS OF THERAPY IN A CASE OF HYPOCHONDROPLASIA

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, An 2014
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
Scopus
NLM Catalog
Ebsco Host - Medline
Semantic Scholar

HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

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.

POSSIBILITIES AND LIMITS OF THERAPY IN A CASE OF HYPOCHONDROPLASIA

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ABSTRACT

Hypocondroplasia is an autosomal dominant genetic disease caused by mutations in the receptor 3 of the fibroblast growth factor gene. The short stature’s negative impact on quality of life can be improved by early diagnosis and prompt recombinant growth hormone therapy. The authors present the case of a teenager who lost the chance of this therapy because of a late diagnosis.

Keywords: hypochondroplasia, short stature, growth hormone.

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