Works matching DE "INBORN errors of metabolism"

Results: 2270

An Integrated Solution for Application of Next-Generation Sequencing in Newborn Screening.

Published in:

Clinical Laboratory, 2025, v. 71, n. 5, p. 803, doi. 10.7754/Clin.Lab.2024.241006

By:

Zhong-Yao Xu;
Shuo-Dan Huang;
Jie Zou;
Wei-Hong Zeng;
Yong-Chao Guo;
Jian-Hui Jiang

Publication type:

Article

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Published in:

Cells (2073-4409), 2025, v. 14, n. 9, p. 638, doi. 10.3390/cells14090638

By:

Radenkovic, Silvia;
Adant, Isabelle;
Bird, Matthew J.;
Swinnen, Johannes V.;
Cassiman, David;
Kozicz, Tamas;
Gruenert, Sarah C.;
Ghesquière, Bart;
Morava, Eva

Publication type:

Article

Enhancing clinical decision-making: a scenario-based patient simulation study using QR code-based algorithms for the management of acute intoxication-type inborn errors of metabolism.

Published in:

Turkish Journal of Pediatrics, 2025, v. 67, n. 2, p. 162, doi. 10.24953/turkjpediatr.2025.5208

By:

Yekedüz, Merve Koç;
Yarenci, Gülçin Bilicen;
Taş, Muhammet;
Okur, Nilüfer;
Eminoğlu, Fatma Tuba

Publication type:

Article

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03732-1

By:

Al Khudari, Rawan;
Baqla, Sameer;
Al Asmar, Diana

Publication type:

Article

Neonatal and paediatric laboratory medicine, including prenatal testing.

Published in:: Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 1, p. s2129, doi. 10.1515/cclm-2025-8061
Publication type:: Article

Global economic costs due to vivax malaria and the potential impact of its radical cure: A modelling study.

Published in:

2021

By:

Devine, Angela;
Battle, Katherine E.;
Meagher, Niamh;
Howes, Rosalind E.;
Dini, Saber;
Gething, Peter W.;
Simpson, Julie A.;
Price, Ric N.;
Lubell, Yoel

Publication type:

journal article

Glucose-6-phosphate dehydrogenase activity in individuals with and without malaria: Analysis of clinical trial, cross-sectional and case-control data from Bangladesh.

Published in:

2021

By:

Ley, Benedikt;
Alam, Mohammad Shafiul;
Kibria, Mohammad Golam;
Marfurt, Jutta;
Phru, Ching Swe;
Ami, Jenifar Quaiyum;
Thriemer, Kamala;
Auburn, Sarah;
Jahan, Nusrat;
Johora, Fatema Tuj;
Hossain, Mohammad Sharif;
Koepfli, Cristian;
Khan, Wasif Ali;
Price, Ric N.

Publication type:

journal article

Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis.

Published in:

2020

By:

Pfeffer, Daniel A;
Ley, Benedikt;
Howes, Rosalind E;
Adu, Patrick;
Alam, Mohammad Shafiul;
Bansil, Pooja;
Boum, Yap 2nd;
Brito, Marcelo;
Charoenkwan, Pimlak;
Clements, Archie;
Cui, Liwang;
Deng, Zeshuai;
Egesie, Ochaka Julie;
Espino, Fe Esperanza;
von Fricken, Michael E;
Hamid, Muzamil Mahdi Abdel;
He, Yongshu;
Henriques, Gisela;
Khan, Wasif Ali;
Khim, Nimol

Publication type:

journal article

Sedation for children with metachromatic leukodystrophy undergoing MRI.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 1, p. 64, doi. 10.1111/j.1460-9592.2006.02002.x

By:

MATTIOLI, CRISTINA;
GEMMA, MARCO;
BALDOLI, CRISTINA;
SESSA, MARIA;
ALBERTIN, ANDREA;
BERETTA, LUIGI

Publication type:

Article

Jane: A Victim of Prader-Willi Syndrome and the System.

Published in:

Social Work, 1990, v. 35, n. 3, p. 279

By:

Aguilar, Gloria Duran

Publication type:

Article

Intricacies in the diagnosis and treatment of gout.

Published in:

Patient Care (Print), 2004, v. 38, n. 10, p. 43

By:

Ostrov, Barbara E.;
Kase, Edwin M.;
D'Epiro, Peter

Publication type:

Article

Hereditary hemochromatosis-- early diagnosis can lead to cure.

Published in:

Patient Care (Print), 2003, v. 37, n. 8, p. 54

By:

Chung, Raymond T.;
Greenberger, Norton J.;
Glaser, Vicki

Publication type:

Article

Diagnostic Accuracy of the Persyst Automated Seizure Detector in the Neonatal Population.

Published in:

Journal of Integrative Neuroscience, 2024, v. 23, n. 8, p. 1, doi. 10.31083/j.jin2308150

By:

Duckworth, Eleanor;
Motan, Daniyal;
Howse, Kitty;
Boyd, Stewart;
Pressler, Ronit;
Chalia, Maria

Publication type:

Article

Refeeding syndrome in a cat with hepatic lipidosis

Published in:

Journal of Feline Medicine & Surgery, 2011, v. 13, n. 8, p. 614, doi. 10.1016/j.jfms.2011.05.001

By:

Brenner, Karen;
KuKanich, Kate S.;
Smee, Nicole M.

Publication type:

Article

Surgical treatment for cervicomedullary compression among infants with achondroplasia.

Published in:

Child's Nervous System, 2015, v. 31, n. 5, p. 743, doi. 10.1007/s00381-015-2624-7

By:

Shimony, Nir;
Ben-Sira, Liat;
Sivan, Yakov;
Constantini, Shlomi;
Roth, Jonathan

Publication type:

Article

Protein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.

Published in:

Amino Acids, 2013, v. 45, n. 6, p. 1331, doi. 10.1007/s00726-013-1609-7

By:

Pey, Angel L.

Publication type:

Article

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 382, doi. 10.5152/TurkArchPediatr.2023.23009

By:

Tin, Oğuzhan;
Zübarioğlu, Tanyel;
Cansever, Mehmet Şerif;
Kıykım, Ertuğrul;
Aktuğlu-Zeybek, Çiğdem

Publication type:

Article

Evaluation of Lymphocyte Subgroups in Children with Glucose-6- Phosphate Dehydrogenase Deficiency.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 3, p. 341, doi. 10.5152/TurkArchPediatr.2023.22195

By:

Orhan, Mehmet Fatih;
Erkun, Olena;
Özdemir, Öner;
Büyükavcı, Mustafa

Publication type:

Article

Newborn Screening: From the Past to the Future.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 5, p. 473, doi. 10.5152/TurkArchPediatr.2022.16082022

By:

Aktuğlu Zeybek, Ayşe Çiğdem

Publication type:

Article

Unmet Needs of Children with Inherited Metabolic Disorders in the COVID-19 Pandemic.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 3, p. 335, doi. 10.5152/TurkArchPediatr.2022.21367

By:

Akın, Ezgi Özalp;
Eminoğlu, Fatma Tuba;
Doğulup, Neslihan;
Yekeduz, Merve Koç;
Öncülü, Ummuhan;
Akpınar, Funda;
Hayran, Gamze

Publication type:

Article

Glucose-6-Phosphate Dehydrogenase Deficiency: A Single-Center Experience.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 1, p. 104, doi. 10.5152/TurkArchPediatr.2022.21195

By:

Al-Mendalawi, Mahmood D.

Publication type:

Article

Glucose 6 phosphate dehydrogenase deficiency: A single-center experience.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 3, p. 245, doi. 10.5152/TurkArchPediatr.2021.20042

By:

Kılıç, Mehmet Akif;
Özdemir, Gül Nihal;
Tahtakesen, Tuba Nur;
Uysalol, Ezgi Paslı;
Bayram, Cengiz;
Ayçiçek, Ali;
Aydoğan, Gönül

Publication type:

Article

Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 78, doi. 10.14744/TurkPediatriArs.2020.57984

By:

Satar, Mehmet;
Kurtoğlu, Ahmet İbrahim;
Yıldızdaş, Hacer Y.;
Mungan, Neslihan Önenli;
Özlü, Ferda;
Bişgin, Atıl

Publication type:

Article

A rare cause of salt-wasting in early infancy: Transient pseudohypoaldosteronism.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 75, doi. 10.14744/TurkPediatriArs.2020.38159

By:

Ceylan, Dilara;
Bayramoğlu, Elvan;
Polat, Emine;
Erdeve, Şenay Savaş;
Çetinkaya, Semra;
Aycan, Zehra

Publication type:

Article

REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B.

Published in:

Turkish Medical Student Journal, 2024, v. 11, n. 2, p. 50, doi. 10.4274/tmsj.galenos.2024.2024-2-1

By:

Özkan, Hasan Selçuk;
Aydın, Ece Derin;
Mammadova, Sakina;
Çoker, Mahmut

Publication type:

Article

Evaluation of Metabolic Disorders in Pediatric Department at Zagazig University Hospital.

Published in:

Zagazig University Medical Journal, 2023, v. 29, n. 2, p. 442, doi. 10.21608/zumj.2021.72829.2196

By:

Elsayyad, Esraa H.;
Beshir, Mohamed R.;
Emam, Ahmed

Publication type:

Article

Crystals Hold the Clue.

Published in:

2017

By:

Varghese, Asha K.;
Shibu, T. S.;
Pushpalatha, M.

Publication type:

Case Study

Public knowledge and awareness toward glucose-6-phosphate dehydrogenase deficiency in Jazan region.

Published in:

King Khalid University Journal of Health Sciences, 2022, v. 7, n. 1, p. 52, doi. 10.4103/KKUJHS.KKUJHS_11_22

By:

Hamali, Hassan;
Muasbil, Asma;
Otaif, Taif;
Qahtani, Maha;
Saboor, Muhammad;
Dobie, Gasim;
Madkhali, Aymen;
Akhter, Mohammad;
Chandika, Rama;
Mobarki, Abdullah

Publication type:

Article

Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.

Published in:

Global Pediatric Health, 2024, p. 1, doi. 10.1177/2333794X241280830

By:

Torres-Sepúlveda, María del Rosario;
Martínez de Villarreal, Laura E.;
Villarreal-Pérez, Jesús Zacarías;
Ruiz Herrera, María del Consuelo;
Arredondo Vázquez, Patricia del Carmen;
Treviño-Morales, Ana Karen

Publication type:

Article

Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.

Published in:

2024

By:

Alayed, Yazeed;
Alghamdi, Wesam;
Alyousef, Rafah

Publication type:

Case Study

A Case of Consanguinity.

Published in:

Global Pediatric Health, 2022, p. 1, doi. 10.1177/2333794X221135965

By:

Brown, Carla;
Jones-Brooks, Paige;
White, Gwenevere;
Shearer, Zackary;
Baber, Megan

Publication type:

Article

Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks.

Published in:

Turkish Journal of Medical Sciences, 2024, v. 54, n. 4, p. 710, doi. 10.55730/1300-0144.5840

By:

SOYLU ÜSTKOYUNCU, Pembe;
ÜSTKOYUNCU, Nurettin

Publication type:

Article

Chlorogenic Acid, a Potential Glucose-6-Phosphatase Inhibitor: An Approach to Develop a Pre-Clinical Glycogen Storage Disease Type I Model.

Published in:

Indian Journal of Pharmaceutical Education & Research, 2024, v. 58, p. S372, doi. 10.5530/ijper.58.2s.40

By:

Patil, Santosh B.;
Gadad, Pramod C.

Publication type:

Article

PHARMACOTHERAPEUTICAL CONSIDERATIONS IN THE TREATMENT AND MANAGEMENT OF NEONATAL HYPERAMMONAEMIA.

Published in:

Farmacia, 2018, v. 66, n. 2, p. 216

By:

JURCA, CLAUDIA;
BEMBEA, MARIUS;
PALLAG, ANAMARIA;
MUREȘAN, MARIANA;
SZILAGYI, ARIANA;
BALMOȘ, ANDREEA;
POP, OVIDIU;
JURCA, ALEXANDRU;
DOBJANSCHI, LUCIANA

Publication type:

Article

Movement disorders in the Hfe knockout mouse.

Published in:

Nutritional Neuroscience, 2005, v. 8, n. 4, p. 239, doi. 10.1080/10284150500277685

By:

Golub, Mari S.;
Germann, Stacey L.;
Araiza, Renee S.;
Reader, J. Rachel;
Griffey, Stephen M.;
Kent Lloyd, K. C.

Publication type:

Article

Acute liver damage and subsequent hypophosphatemia in malnourished patients: Case reports and review of literature.

Published in:

International Journal of Eating Disorders, 2008, v. 41, n. 2, p. 188, doi. 10.1002/eat.20476

By:

Saito, Takatoshi;
Tojo, Katsuyoshi;
Miyashita, Yumi;
Tominaga, Mitsutoshi;
Masai, Akiko;
Tajima, Naoko

Publication type:

Article

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature.

Published in:

2022

By:

KAZEMI, Tara;
FIRGAU, Edward;
BUNCH, Dustin R.;
KAHWASH, Samir B.

Publication type:

Case Study

Acute Intermittent Porphyria: A rare cause of hyponatraemia.

Published in:

Malaysian Journal of Pathology, 2019, v. 41, n. 3, p. 369

By:

MOHAMED ZAINUDDIN, Nadiah;
STHANESHWAR, Pavai;
VETHAKKAN, Shireene Ratna D. B.

Publication type:

Article

Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.

Published in:

Quality of Life Research, 2024, v. 33, n. 12, p. 3323, doi. 10.1007/s11136-024-03775-0

By:

Konomura, Keiko;
Numakura, Chikahiko;
Nakamura-Utsunomiya, Akari;
Hoshino, Eri;
Tajima, Go;
Kobayashi, Hironori;
Nakamura, Kimitoshi;
Shimozawa, Nobuyuki;
Bo, Ryosuke;
Shiroiwa, Takeru;
Shigematsu, Yosuke;
Fukuda, Takashi

Publication type:

Article

Low Hemoglobin Saturation in the Setting of Hyperuricemia.

Published in:

2019

By:

Sarah Jung;
Sayad, Karen;
Staitieh, Bashar S.;
Jung, Sarah

Publication type:

journal article

Glucose‐6‐phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2491

By:

Iyer, Neel S.;
Mossayebi, Matthew H.;
Gao, Tracy J.;
Haizler‐Cohen, Lylach;
Di Mascio, Daniele;
McLaren, Rodney A.;
Al‐Kouatly, Huda B.

Publication type:

Article

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Published in:

2024

By:

Fan, Shiqi;
Wu, Huanhuan;
Wang, Rongrong;
Chen, Qian;
Zhang, Xue

Publication type:

Case Study

A new case of sodium‐dependent multivitamin transporter defect occurring as a life‐threatening condition responsive to early vitamin supplementation and literature review.

Published in:

2024

By:

Van Vyve, F.‐X.;
Mercier, N.;
Papadopoulos, J.;
Heijmans, C.;
Dessy, H.;
Monestier, O.;
Dewulf, J. P.;
Roland, D.

Publication type:

Case Study

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2283

By:

Verma, Anisha;
Lehman, April N.;
Gokcan, Hatice;
Cropcho, Lorna;
Black, Danielle;
Dobrowolski, Steven F.;
Vockley, Jerry;
Bedoyan, Jirair K.

Publication type:

Article

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2152

By:

Men, Shuai;
Liu, Shuang;
Zheng, Qin;
Yang, Shuting;
Mao, Huafen;
Wang, Zhiwei;
Gu, Ying;
Tang, Xinxin;
Wang, Leilei

Publication type:

Article

Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2073

By:

Tubili, Flavia;
Pochiero, Francesca;
Curcio, Maria Rosaria;
Procopio, Elena

Publication type:

Article

Genetic variants associated with diseases in Afghan population.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1608

By:

Zadran, Suleman Khan;
Ilyas, Muhammad;
Dawari, Shamsia

Publication type:

Article

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1640

By:

Shi, Kaili;
Zhao, Huimin;
Xu, Shuming;
Han, Hong;
Li, Wenjuan

Publication type:

Article

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1214

By:

Weber Hoss, Giovana R.;
Sperb‐Ludwig, Fernanda;
Schwartz, Ida V. D.;
Blom, Henk J.

Publication type:

Article

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.937

By:

Ibarra‐González, Isabel;
Fernández‐Lainez, Cynthia;
Alcántara‐Ortigoza, Miguel Angel;
González‐Del Angel, Ariadna;
Fernández‐Henández, Liliana;
Guillén‐López, Sara;
Belmont‐Martínez, Leticia;
López‐Mejía, Lizbeth;
Varela‐Fascinetto, Gustavo;
Vela‐Amieva, Marcela

Publication type:

Article