Citrullinemia in a newborn: a case report
- Authors: Golosnaya G.S.1, Belousova T.N.2, Novikov M.Y.2, Knyazeva N.Y.2, Podkopaev D.Y.2, Trifonova E.G.2, Makulova A.I.3, Ginen Y.Y.4, Kozheurova Z.A.2, Kholichev D.A.2, Politov D.A.2, Baranova P.V.5, Ermolenko N.A.6, Krasnorutskaya O.N.6, Kaledina E.Y.6, Tukabaev G.P.3, Ogurtsov A.V.1, Seleznev K.A.2
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Affiliations:
- V.F. Snegirev Clinic of Obstetrics and Gynecology, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
- Vidnoye Perinatal Center
- G.N. Speranskiy Children’s City Clinical Hospital No. 9, Moscow Healthcare Department
- Vidnoye Regional Clinical Hospital
- N.P. Bochkov Research Center for Medical Genetics
- N.N. Burdenko Voronezh State Medical University
- Issue: Vol 17, No 3 (2022)
- Pages: 72-78
- Section: CLINICAL OBSERVATIONS
- Published: 17.12.2022
- URL: https://rjdn.abvpress.ru/jour/article/view/408
- DOI: https://doi.org/10.17650/2073-8803-2022-17-3-72-78
- ID: 408
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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.
Keywords
About the authors
G. S. Golosnaya
V.F. Snegirev Clinic of Obstetrics and Gynecology, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
Author for correspondence.
Email: ggolosnaya@yandex.ru
ORCID iD: 0000-0001-6103-7171
Galina Stanislavovna Golosnaya
2 Elanskogo St., Moscow 119881
Russian FederationT. N. Belousova
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0003-3804-7691
17 Zavodskaya St., Vidnoye 142703
Russian FederationM. Yu. Novikov
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0002-1079-2828
17 Zavodskaya St., Vidnoye 142703
Russian FederationN. Yu. Knyazeva
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0002-6431-4215
17 Zavodskaya St., Vidnoye 142703
Russian FederationD. Yu. Podkopaev
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0001-7251-4420
17 Zavodskaya St., Vidnoye 142703
Russian FederationE. G. Trifonova
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0001-7398-6243
17 Zavodskaya St., Vidnoye 142703
Russian FederationA. I. Makulova
G.N. Speranskiy Children’s City Clinical Hospital No. 9, Moscow Healthcare Department
Email: fake@neicon.ru
ORCID iD: 0000-0001-9952-3159
25 Shmidtovskiy Proezd, Moscow 123317
Russian FederationYa. Ya. Ginen
Vidnoye Regional Clinical Hospital
Email: fake@neicon.ru
ORCID iD: 0000-0001-9424-5014
15 Zavodskaya St., Vidnoye 142700
Russian FederationZ. A. Kozheurova
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0002-9540-2752
17 Zavodskaya St., Vidnoye 142703
Russian FederationD. A. Kholichev
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0002-1989-9429
17 Zavodskaya St., Vidnoye 142703
Russian FederationD. A. Politov
Vidnoye Perinatal Center
Email: fake@neicon.ru
17 Zavodskaya St., Vidnoye 142703
Russian FederationP. V. Baranova
N.P. Bochkov Research Center for Medical Genetics
Email: fake@neicon.ru
ORCID iD: 0000-0001-6664-7577
1 Moskvorechye St., Moscow 115522
Russian FederationN. A. Ermolenko
N.N. Burdenko Voronezh State Medical University
Email: fake@neicon.ru
ORCID iD: 0000-0001-7197-6009
10 Studencheskaya St., Voronezh 394036
Russian FederationO. N. Krasnorutskaya
N.N. Burdenko Voronezh State Medical University
Email: fake@neicon.ru
ORCID iD: 0000-0003-4796-7334
10 Studencheskaya St., Voronezh 394036
Russian FederationE. Ya. Kaledina
N.N. Burdenko Voronezh State Medical University
Email: fake@neicon.ru
ORCID iD: 0000-0001-9459-6789
10 Studencheskaya St., Voronezh 394036
Russian FederationG. P. Tukabaev
G.N. Speranskiy Children’s City Clinical Hospital No. 9, Moscow Healthcare Department
Email: fake@neicon.ru
ORCID iD: 0000-0001-5883-2633
25 Shmidtovskiy Proezd, Moscow 123317
Russian FederationA. V. Ogurtsov
V.F. Snegirev Clinic of Obstetrics and Gynecology, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
Email: fake@neicon.ru
ORCID iD: 0000-0002-2788-442X
2 Elanskogo St., Moscow 119881
Russian FederationK. A. Seleznev
Vidnoye Perinatal Center
Email: fake@neicon.ru
ORCID iD: 0000-0002-9939-3259
17 Zavodskaya St., Vidnoye 142703
Russian FederationReferences
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