The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
