Arhiva autor

Camelia Malancioiu

Latest posts by Camelia Malancioiu (see all)

Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Non-ketotic hyperglycinemia

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LX, Nr. 2, An 2011
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.

Non-ketotic hyperglycinemia

, , and

ABSTRACT

Non-ketotic hyperglycinemia (NKHG) is an inborn error of glycine metabolism in which large quantities of glycine accumulate in all body tissues, including the brain. This accumulation in central nervous system produces hyperexcitability of neurons and seizures. We report a case of non-ketotic hyperglycinemia in a newborn.

Key words: hypotonia, unexplained coma, seizures, non-ketotic hyperglycinemia, newborn

Full text | PDF

HIPERGLICINEMIA NONCETONICA

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LX, Nr. 2, An 2011
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.

HIPERGLICINEMIA NONCETONICA

, , and

REZUMAT

Hiperglicinemia noncetonică (HGNC) este o boală genetică a metabolismului glicinei, în care se acumulează cantităţi crescute de glicină în toate ţesuturile, inclusiv în creier. Această acumulare în sistemul nervos central determină hiperexcitabilitate neuronală şi convulsii. Prezentăm un caz de hiperglicinemie noncetonică, reformă neonatală.

Cuvinte cheie: hipotonie, comă inexplicabilă, convulsii, hiperglicinemie noncetonică, nou-născut

Full text | PDF