المؤلفون: Jasinge Eresha, Fernando Mihika, Indika Neluwa-Liyanage Ruwan, Ratnayake Pyara Dilani, Gamaathige Nalin, Ratnaranjith Ratnanathan, Schroeder Sabine, Jones Patricia, Volha Skrahina, Jayasena Subhashinie, Gunaratna Anusha Varuni, Bandara Ekanayake Asitha Niroshana, Rolfs Arndt

المصدر: Advances in Laboratory Medicine, Vol 5, Iss 2, Pp 205-212 (2024)

مصطلحات موضوعية: genotype, citrulline, neonate, phenotype, pyruvate carboxylase deficiency, Medical technology, R855-855.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2628-491X

URL الوصول: https://doaj.org/article/6f9a60f7241143569eb60ededea52c1f

المؤلفون: Ultragenyx Pharmaceutical Inc

المساهمون: Jerry Vockley, MD, PhD, Professor of Pediatrics/Human Genetics

المصدر: Dietary Therapy for Inherited Disorders of Energy Metabolism

المؤلفون: Mei Xue

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: case report, pyruvate carboxylase deficiency, neurological injury, genetic analysis, prenatal diagnosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1199590/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/1d46ed55ab41496b949005e11ac62ec5

المؤلفون: shahin koohmanaee, nejat mahdie, Reza Bayat, fatemeh kharaee, Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, setila dalili

المصدر: Acta Medica Iranica, Pp 625-628 (2021)

مصطلحات موضوعية: pyruvate carboxylase deficiency disease, survival, laboratories, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://acta.tums.ac.ir/index.php/acta/article/view/9573; https://doaj.org/toc/0044-6025; https://doaj.org/toc/1735-9694

URL الوصول: https://doaj.org/article/3f37d69eae9943418301184ba3607a54

المؤلفون: Polina Tsygankova, Igor Bychkov, Marina Minzhenkova, Natalia Pechatnikova, Lyudmila Bessonova, Galina Buyanova, Irina Naumchik, Nikita Beskorovainiy, Vyacheslav Tabakov, Yulia Itkis, Nadezhda Shilova, Ekaterina Zakharova

المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100889- (2022)

مصطلحات موضوعية: Pyruvate carboxylase deficiency, Reciprocal translocations, Deep intronic variants, WES, WGS, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000490; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3b023d91c24c4a228d7b9d0076ffc9e3

المؤلفون: DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: pyruvate carboxylase deficiency, c.1825+5G>A, PC gene, splice-site variant, pathogenic variant, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.825515/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/19373d97824a41138477e2050a2eaf9a

المؤلفون: Colak, R., Demir Köse, M., Dr., Yangin Ergon, E., Kulali, F., Yildiz, M., Alkan, S., Atılgan, Taner

مصطلحات موضوعية: hemodialysis, anaplerotic treatment, hemofiltration, hyperammonemia, lactic acidosis, pyruvate carboxylase deficiency, ammonia, arginine, aspartic acid, benzoic acid, biotin, citric acid, dichloroacetic acid, phenylacetic acid derivative, pyruvate carboxylase, riboflavin, thiamine, ubiquinone, Article, autosomal recessive disorder, base pairing, brain disease, case report, clinical article, continuous hemodialysis, differential diagnosis, exon, gene deletion, gene mutation, genetic analysis

Relation: Journal of Pediatric Endocrinology and Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/37203; 33; 569; 574; WOS:000524402800018

الاتاحة: https://hdl.handle.net/11499/37203
https://doi.org/10.1515/jpem-2019-0307

المؤلفون: Yu Sun, Hadrien Demagny, Adrien Faure, Francesca Pontanari, Antoine Jalil, Nadia Bresciani, Ece Yildiz, Melanie Korbelius, Alessia Perino, Kristina Schoonjans

المصدر: Journal of Clinical Investigation. 133

مصطلحات موضوعية: tetrachloride-induced hepatotoxicity, mice, pyruvate-carboxylase deficiency, receptor shp, expression, glutamine-synthetase, stress-response, hepatic glutamine, General Medicine, metabolism, carbon-tetrachloride

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e58d22c4ba125513f9e4d85bff3281c
https://doi.org/10.1172/jci163508

المؤلفون: Cheryl Rockman-Greenberg, Aizeddin A. Mhanni, Martin Bunge, Lawrence Ryner

المصدر: JIMD Reports, Vol 61, Iss 1, Pp 42-47 (2021)
JIMD Reports

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Case Report, Case Reports, QH426-470, Creatine, pyruvate carboxylase, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Lateral ventricles, chemistry.chemical_compound, Internal medicine, Internal Medicine, medicine, prenatal onset, Genetics, Decompensation, neuroimaging, Pyruvate carboxylase deficiency, business.industry, medicine.disease, RC648-665, Hypotonia, Pyruvate carboxylase, lactic acidosis, Endocrinology, chemistry, Lactic acidosis, brain morphogenesis, medicine.symptom, business, Brain morphogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e40991e8c178ba81fbfc19cc73951d99
https://doaj.org/article/24a9a0c243f74903a5d910a48f09ade8

المؤلفون: Mei Xue

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, case report, pyruvate carboxylase deficiency, neurological injury, genetic analysis, prenatal diagnosis

Relation: https://figshare.com/articles/dataset/DataSheet_1_Case_Report_Prenatal_neurological_injury_in_a_neonate_with_pyruvate_carboxylase_deficiency_type_B_docx/23640219

الاتاحة: https://doi.org/10.3389/fendo.2023.1199590.s001
https://figshare.com/articles/dataset/DataSheet_1_Case_Report_Prenatal_neurological_injury_in_a_neonate_with_pyruvate_carboxylase_deficiency_type_B_docx/23640219

المؤلفون: Weinstein, David A., Steuerwald, Ulrike, De Souza, Carolina F. M., Derks, Terry G. J.

المصدر: Weinstein , D A , Steuerwald , U , De Souza , C F M & Derks , T G J 2018 , ' Inborn Errors of Metabolism with Hypoglycemia Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis : Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis ' , Pediatric clinics of North America , vol. 65 , no. 2 , pp. 247-265 . https://doi.org/10.1016/j.pcl.2017.11.005

مصطلحات موضوعية: Glycogen storage disease, Hypoglycemia, Ketosis, Lactate, Disorders of gluconeogenesis, Ketotic hypoglycemia, PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, PYRUVATE-CARBOXYLASE DEFICIENCY, I ESGSD-I, HEPATOCELLULAR-CARCINOMA, UNCOOKED CORNSTARCH, CONTINUOUS GLUCOSE, CLINICAL-COURSE, NEUTROPHIL DYSFUNCTION, LIVER-TRANSPLANTATION

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/692a1d6c-6c56-4830-aa57-e90f823ce1c0
https://research.rug.nl/en/publications/692a1d6c-6c56-4830-aa57-e90f823ce1c0
https://doi.org/10.1016/j.pcl.2017.11.005
https://pure.rug.nl/ws/files/56963430/Inborn_Errors_of_Metabolism_with_Hypoglycemia.pdf

المؤلفون: Engin Kose, Fatma Tuba Eminoğlu, Neslihan Doğulu, Ümmühan Öncül, Zehra Aycan

المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:947-950

مصطلحات موضوعية: medicine.medical_specialty, Abdominal pain, Diabetic ketoacidosis, Pyruvate carboxylase deficiency, business.industry, Endocrinology, Diabetes and Metabolism, Metabolic acidosis, medicine.disease, Kussmaul breathing, Gastroenterology, Pyruvate carboxylase, 03 medical and health sciences, Lethargy, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Vomiting, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::20cd9c6696c1780628c617043ad3b41a
https://doi.org/10.1515/jpem-2020-0646

المؤلفون: Onyedikachi Oji, Aswin Babu, Nikhil Sahdev, Smita Dutta Roy

المصدر: European Heart Journal: Case Reports

مصطلحات موضوعية: Pyruvate, Tachycardia, medicine.medical_specialty, Abdominal pain, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Seizures, Internal medicine, Case report, Medicine, AcademicSubjects/MED00200, Takotsubo, Ejection fraction, biology, business.industry, Pyruvate carboxylase deficiency, Carboxylase, Metabolic acidosis, medicine.disease, Troponin, Failure to thrive, biology.protein, Cardiology, Pyruvate Carboxylase Deficiency Disease, medicine.symptom, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9fc7da5092387ab52cfda32cb4729c
https://doi.org/10.1093/ehjcr/ytab011

المؤلفون: DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, pyruvate carboxylase deficiency, c.1825+5G>A, PC gene, splice-site variant, pathogenic variant

Relation: https://figshare.com/articles/dataset/Table_1_PC_Splice-Site_Variant_c_1825_5G_A_Caused_Intron_Retention_in_a_Patient_With_Pyruvate_Carboxylase_Deficiency_A_Case_Report_pdf/19670925

الاتاحة: https://doi.org/10.3389/fped.2022.825515.s001
https://figshare.com/articles/dataset/Table_1_PC_Splice-Site_Variant_c_1825_5G_A_Caused_Intron_Retention_in_a_Patient_With_Pyruvate_Carboxylase_Deficiency_A_Case_Report_pdf/19670925

المؤلفون: Momen Almomen, Sylvia Stockler-Ipsiroglu, Gabriella Horvath, Graham Sinclair

المصدر: Neuropediatrics. 49:369-372

مصطلحات موضوعية: Lethargy, 0301 basic medicine, medicine.medical_specialty, Flaccid paralysis, Pyruvate Carboxylase Deficiency Disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Acidosis, Paraplegia, business.industry, Pyruvate carboxylase deficiency, Infant, Ketosis, General Medicine, medicine.disease, Pyruvate carboxylase, Ketoacidosis, Phenotype, 030104 developmental biology, Endocrinology, Pediatrics, Perinatology and Child Health, Failure to thrive, Muscle Hypotonia, Acidosis, Lactic, Female, Neurology (clinical), medicine.symptom, business, Severe lactic acidosis, Constipation, 030217 neurology & neurosurgery, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a33711b8a6c375ad2ba129a12b3d466
https://doi.org/10.1055/s-0038-1667171

المؤلفون: Ahmed Eissa-Garcés, Samir Ruxmohan, Leticia Campoverde, Jessica Hidalgo, Juan Fernando Ortiz

المصدر: Cureus

مصطلحات موضوعية: medicine.medical_specialty, 030204 cardiovascular system & hematology, Hypoglycemia, pyruvate carboxylase, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, seizures, Alanine, infantile spasm, business.industry, Pyruvate carboxylase deficiency, nervous system, Metabolic disorder, General Engineering, Hyperammonemia, medicine.disease, Pyruvate carboxylase, lactic acidosis, Endocrinology, Neurology, Gluconeogenesis, Lactic acidosis, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb86b0bd5d15b93a4538c21d9a81d84d
https://doi.org/10.7759/cureus.15042

المؤلفون: Ezgi Yangın Ergon, Rüya Çolak, Melis Köse, Taner Atilgan, Erkin Serdaroglu, Meral Yildiz, Ferit Kulali, Fatma Aslan, Garry K. Brown, Ruth M. Brown, Şebnem Çalkavur, Senem Alkan

مصطلحات موضوعية: 030213 general clinical medicine, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, arginine, genetic analysis, medicine.disease_cause, pyruvate carboxylase, ammonia, hemofiltration, chemistry.chemical_compound, Exon, 0302 clinical medicine, Endocrinology, Biotin, biotin, newborn, differential diagnosis, base pairing, exon, gene mutation, phenylacetic acid derivative, continuous hemodialysis, brain disease, Mutation, clinical article, hemodialysis, Pyruvate carboxylase deficiency, benzoic acid, Hyperammonemia, Turkish citizen, Pyruvate carboxylase, lactic acidosis, peritoneal dialysis, Lactic acidosis, Hemodialysis, pyruvate carboxylase deficiency, medicine.medical_specialty, hyperammonemic encephalopathy, hyperammonemia, phenotype, dichloroacetic acid, Article, newborn period, thiamine, 03 medical and health sciences, male, Internal medicine, ubiquinone, medicine, case report, anaplerotic treatment, human, riboflavin, autosomal recessive disorder, business.industry, gene deletion, citric acid, medicine.disease, neonatal intensive care unit, chemistry, Pediatrics, Perinatology and Child Health, aspartic acid, homozygosity, business, 030217 neurology & neurosurgery, tachypnea

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f60e18fc5ff2d19a2cb0ce1c5d8c74
https://hdl.handle.net/11499/37203

المؤلفون: Olivier Picone, Agnes Guet, Laurent Mandelbrot, Charles Egloff, Aurelia Eldin de Pecoulas, Chloé Dussaux, Audrey Boutron, I. Simon, Mikael Tassin, Frederic Corrizi, Valerie Mairovitz, Charlotte Mechler, Jeanne Sibiude

المصدر: Prenatal Diagnosis. 38:607-616

مصطلحات موضوعية: 0301 basic medicine, Fetus, Pathology, medicine.medical_specialty, Pregnancy, Pyruvate carboxylase deficiency, business.industry, Obstetrics and Gynecology, Corpus callosum, medicine.disease, Pyruvate dehydrogenase complex, Pyruvate dehydrogenase deficiency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Abnormality, business, 030217 neurology & neurosurgery, Genetics (clinical), Ventriculomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cad3b05bf948eb266282bbfa978027a
https://doi.org/10.1002/pd.5282

المؤلفون: Fanny Mochel

المصدر: Journal of Neuroscience Research. 95:2236-2243

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Triglyceride, Pyruvate carboxylase deficiency, Glucose transporter, Biology, Carbohydrate metabolism, medicine.disease, 3. Good health, Triheptanoin, Citric acid cycle, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Endocrinology, chemistry, Internal medicine, medicine, biology.protein, GLUT1, Beta oxidation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::56e3b3a96b9603140fb2d2a5dd6450af
https://doi.org/10.1002/jnr.24111

المؤلفون: Kose, MD, Colak, R, Ergon, EY, Kulali, F, Yildiz, M, Alkan, S, Atilgan, T, Aslan, F, Brown, R, Brown, G, Serdaroglu, E, Calkavur, S

مصطلحات موضوعية: anaplerotic treatment, hemodialysis, hemofiltration, hyperammonemia, lactic acidosis, pyruvate carboxylase deficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3566::4d9061f14b7489c397fd0acce4359290