Citrullinemia in a newborn: a case report-Reference-Cited by-同舟云学术

Citrullinemia in a newborn: a case report

Published:2022-12-17 Issue:3 Volume:17 Page:72-78
ISSN:2412-9178
Container-title:Russian Journal of Child Neurology
language:
Short-container-title:Rus. ž. det. nevrol.

Author:

Golosnaya G. S.¹^ORCID,Belousova T. N.²^ORCID,Novikov M. Yu.²^ORCID,Knyazeva N. Yu.²^ORCID,Podkopaev D. Yu.²^ORCID,Trifonova E. G.²^ORCID,Makulova A. I.³^ORCID,Ginen Ya. Ya.⁴^ORCID,Kozheurova Z. A.²^ORCID,Kholichev D. A.²^ORCID,Politov D. A.²,Baranova P. V.⁵^ORCID,Ermolenko N. A.⁶^ORCID,Krasnorutskaya O. N.⁶^ORCID,Kaledina E. Ya.⁶^ORCID,Tukabaev G. P.³^ORCID,Ogurtsov A. V.¹^ORCID,Seleznev K. A.²^ORCID

Affiliation:

1. V.F. Snegirev Clinic of Obstetrics and Gynecology, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia

2. Vidnoye Perinatal Center

3. G.N. Speranskiy Children’s City Clinical Hospital No. 9, Moscow Healthcare Department

4. Vidnoye Regional Clinical Hospital

5. N.P. Bochkov Research Center for Medical Genetics

6. N.N. Burdenko Voronezh State Medical University

Abstract

Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment is not always successful due to the rapid progression of symptoms. We report a case of citrullinemia diagnosed in a newborn in Vidnoye Perinatal Center.

Publisher

Publishing House ABV Press

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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