Works matching Inborn errors of metabolism

Results: 5000

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Published in:

2016

By:

Ebrahimi-Fakhari, Darius;
Saffari, Afshin;
Wahlster, Lara;
Lu, Jenny;
Byrne, Susan;
Hoffmann, Georg F.;
Jungbluth, Heinz;
Sahin, Mustafa

Publication type:

journal article

'Medical Nutrition Therapy and the Principal of Diet Planning in Inborn Errors of Metabolism (IEM)' and 'the appliccation of the Comprehensive Software of Growth Assessment and Diet Planning for Inborn Errors of Metabolism_(Metabolic Nutri-Expert System)': A Nutrition Workshop.

Published in:

Journal of Biomedical Physics & Engineering, 2021, v. 11, p. 28

By:

Abdollahzadeh, Seyedeh Maryam

Publication type:

Article

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Published in:

2016

By:

Al-Shamsi, Aisha;
Hertecant, Jozef L.;
Souid, Abdul-Kader;
Al-Jasmi, Fatma A.

Publication type:

journal article

Actual insights into treatable inborn errors of metabolism causing epilepsy.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 13, doi. 10.4103/JPN.JPN_160_16

By:

Mastrangelo, Mario

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

Disease Modeling Advances in Inborn Error of Metabolism.

Published in:

International Medical Journal, 2024, v. 31, n. 6, p. 162

By:

Harsono, Ivan William;
Adiwinata Pawitan, Jeanne

Publication type:

Article

Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017.

Published in:

Journal of Medical Screening, 2021, v. 28, n. 3, p. 223, doi. 10.1177/0969141320973690

By:

Deng, Kui;
Zhu, Jun;
Yu, Erling;
Xiang, Liangcheng;
Yuan, Xuelian;
Yao, Yongna;
Li, Xiaohong;
Liu, Hanmin

Publication type:

Article

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.

Published in:

Headache: The Journal of Head & Face Pain, 2016, v. 56, n. 1, p. 215, doi. 10.1111/head.12749

By:

Gelfand, Amy A.;
Gallagher, Renata C.

Publication type:

Article

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 23, doi. 10.3390/ijns10010023

By:

Belaramani, Kiran Moti;
Chan, Toby Chun Hei;
Hau, Edgar Wai Lok;
Yeung, Matthew Chun Wing;
Kwok, Anne Mei Kwun;
Lo, Ivan Fai Man;
Law, Terry Hiu Fung;
Wu, Helen;
Wong, Sheila Suet Na;
Lam, Shirley Wai;
Ha, Gladys Ha Yin;
Lau, Toby Pui Yee;
Wong, Tsz Ki;
Or, Venus Wai Ching;
Wong, Rosanna Ming Sum;
Ming, Wong Lap;
Chow, Jasmine Chi Kwan;
Yau, Eric Kin Cheong;
Fu, Antony;
Chong, Josephine Shuk Ching

Publication type:

Article

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.801

By:

Ortigoza-Escobar, Juan Darío

Publication type:

Article

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 6, p. 527, doi. 10.3390/metabo12060527

By:

Lee, Namgyu;
Kim, Dohoon

Publication type:

Article

Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism.

Published in:

2019

By:

Celik, Muhittin;
Akdeniz, Osman;
Ozgun, Nezir;
Ipek, Mehmet Sah;
Ozbek, Mehmet Nuri

Publication type:

journal article

The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism.

Published in:

Genes, 2022, v. 13, n. 2, p. 265, doi. 10.3390/genes13020265

By:

Van Damme, Tim;
Colman, Marlies;
Syx, Delfien;
Malfait, Fransiska

Publication type:

Article

Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism.

Published in:

Neonatology (16617800), 2012, v. 102, n. 3, p. 203, doi. 10.1159/000339567

By:

Olischar, Monika;
Shany, Eilon;
Aygün, Canan;
Azzopardi, Denis;
Hunt, Rod W.;
Toet, Mona C.;
Hamosh, Ada;
de Vries, Linda S.;
Hellström-Westas, Lena;
Theda, Christiane

Publication type:

Article

ANOMALII HEMATOLOGICE ÎN BOLILE GENETICE DE METABOLISM.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2010, v. 59, n. 1, p. 8

By:

Popescu, Valeriu;
Zamfirescu, Andrei

Publication type:

Article

Inborn errors of metabolism and expanded newborn screening: review and update.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2013, v. 50, n. 6, p. 142, doi. 10.3109/10408363.2013.847896

By:

Mak, Chloe Miu;
Lee, Han-Chih Hencher;
Chan, Albert Yan-Wo;
Lam, Ching-Wan

Publication type:

Article

Update on Neuropathies in Inborn Errors of Metabolism.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 763, doi. 10.3390/brainsci11060763

By:

Pająk, Renata;
Mendela, Ewelina;
Będkowska, Natalia;
Paprocka, Justyna

Publication type:

Article

Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1278750

By:

Zharmakhanova, Gulmira;
Kononets, Victoria;
Balmagambetova, Saule;
Syrlybayeva, Lyazzat;
Nurbaulina, Eleonora;
Zhussupova, Zhanna;
Sakhanova, Svetlana;
Ayaganov, Dinmukhamed;
Kim, Svetlana;
Zhumalina, Akmaral

Publication type:

Article

Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon.

Published in:

Journal of Medical Screening, 2015, v. 22, n. 4, p. 182, doi. 10.1177/0969141315590675

By:

Khneisser, I.;
Adib, S.;
Assaad, S.;
Megarbane, A.;
Karam, P.

Publication type:

Article

Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting.

Published in:

Current Pediatric Reviews, 2023, v. 19, n. 1, p. 34, doi. 10.2174/1573396318666220404113732

By:

Mukherjee, Sukhes;
Kotnis, Ashwin;
Ray, Suman Kumar;
Vaidyanathan, Kannan;
Singh, Snighdha;
Rishabh

Publication type:

Article

Anesthetic complications in patients with inborn errors of metabolism undergoing non-cardiac surgery.

Published in:

Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2013, v. 41, n. 4, p. 257

By:

Berrío Valencia, Marta Inés;
Martínez Ochoa, Catalina María;
Durango Gómez, Heisa Catalina

Publication type:

Article

Autistic Feature as a Presentation of Inborn Errors of Metabolism.

Published in:

Iranian Journal of Child Neurology, 2020, v. 14, n. 4, p. 17

By:

AHMADABADI, Farzad;
NEMATI, Hamid;
ABDOLMOHAMMADZADEH, Amirmohammad;
AHADI, Adel

Publication type:

Article

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Published in:

Respiration, 2017, v. 94, n. 1, p. 2, doi. 10.1159/000475762

By:

Tran, Christel;
Barbey, Frederic;
Lazor, Romain;
Bonafé, Luisa

Publication type:

Article

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1029947

By:

Salman, Doaa O.;
Mahfouz, Rami;
Bitar, Elio R.;
Samaha, Jinane;
Karam, Pascale E.

Publication type:

Article

Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study.

Published in:

Indian Journal of Psychological Medicine, 2017, v. 39, n. 2, p. 146, doi. 10.4103/0253-7176.203125

By:

Tiwari, Shivani;
Kallianpur, Divya;
DeSilva, Kelly Ann

Publication type:

Article

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Published in:

2016

By:

Alfadhel, Majid;
Benmeakel, Mohammed;
Arif Hossain, Mohammad;
Al Mutairi, Fuad;
Al Othaim, Ali;
Alfares, Ahmed A.;
Al Balwi, Mohammed;
Alzaben, Abdullah;
Eyaid, Wafaa;
Hossain, Mohammad Arif

Publication type:

journal 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

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.

Published in:

PeerJ, 2024, p. 1, doi. 10.7717/peerj.18173

By:

Zhu, Jingying;
Han, Li;
Yang, Pingjingwen;
Feng, Ziyi;
Xue, Shuyuan

Publication type:

Article

A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish.

Published in:

Biomolecules (2218-273X), 2020, v. 10, n. 9, p. 1352, doi. 10.3390/biom10091352

By:

Breuer, Maximilian;
Patten, Shunmoogum A.

Publication type:

Article

Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.758142

By:

Elmonem, Mohamed A.;
van den Heuvel, Lambertus P.

Publication type:

Article

Epileptik ensefalopatiler ve doğuştan metabolizma hastalıkları.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2012, v. 55, n. 3, p. 141

By:

Ünal, Özlem;
Haliloğlu, Göknur;
Coşkun, Turgay

Publication type:

Article

Errores innatos del metabolismo intermediario. Propuesta de guía diagnóstica de urgencias en un hospital comarcal.

Published in:

Acta Pediátrica Española, 2013, v. 71, n. 2, p. 47

By:

Vitoria Miñana, I.;
Rausell Félix, D.;
Lahuerta Cervera, S.;
Sánchez Zahonero, S.;
Dalmau Serra, J.

Publication type:

Article

Vaccination strategies for people living with inborn errors of metabolism in Brazil.

Published in:

Jornal de Pediatria, 2023, v. 99, p. S70, doi. 10.1016/j.jped.2022.12.001

By:

Ramos, Barbara C. F.;
Aranda, Carolina S.;
Cardona, Rita S. B.;
Martins, Ana Maria;
Solé, Dirceu;
Clemens, Sue Ann C.;
Clemens, Ralf

Publication type:

Article

Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism.

Published in:

Pediatric Nephrology, 2014, v. 29, n. 1, p. 111, doi. 10.1007/s00467-013-2609-2

By:

Tsai, I-Jung;
Hwu, Wuh-Liang;
Huang, Shu-Chien;
Lee, Ni-Chung;
Wu, En-Ting;
Chien, Yin-Hsiu;
Tsau, Yong-Kwei

Publication type:

Article

Ex vivo proton spectroscopy (<sup>1</sup>H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses.

Published in:

NMR in Biomedicine, 2023, v. 36, n. 4, p. 1, doi. 10.1002/nbm.4853

By:

Cannet, Claire;
Frauendienst‐Egger, Georg;
Freisinger, Peter;
Götz, Hermann;
Götz, Madalina;
Himmelreich, Nastassja;
Kock, Vanessa;
Spraul, Manfred;
Bus, Christine;
Biskup, Saskia;
Trefz, Friedrich

Publication type:

Article

A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.

Published in:

Children, 2023, v. 10, n. 8, p. 1341, doi. 10.3390/children10081341

By:

Onuki, Takanori;
Hiroshima, Shota;
Sawano, Kentaro;
Shibata, Nao;
Ogawa, Yohei;
Nagasaki, Keisuke;
Nyuzuki, Hiromi

Publication type:

Article

Clinical approach to inborn errors of metabolism presenting in the newborn period.

Published in:

2002

By:

Ellaway, CJ;
Wilcken, B;
Christodoulou, J;
Ellaway, C J

Publication type:

journal article

Frequency of Inborn Errors of Metabolism among Infants with Non-Apparent Causes of Failure to Thrive in Zagazig University Hospitals.

Published in:

Egyptian Journal of Hospital Medicine, 2020, v. 81, n. 5, p. 1948

By:

El-Desouky, Azza Ibrahim;
El-Gebally, Sherif Mohamed;
Beyoumi, Tarek Mahmoud

Publication type:

Article

Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan.

Published in:

2020

By:

Mansoor, Sumreena

Publication type:

journal article

DDIEM: drug database for inborn errors of metabolism.

Published in:

2020

By:

Abdelhakim, Marwa;
McMurray, Eunice;
Syed, Ali Raza;
Kafkas, Senay;
Kamau, Allan Anthony;
Schofield, Paul N;
Hoehndorf, Robert

Publication type:

journal article

Incidence of Inborn Errors of Metabolism in Newborn Infants: Five Years' Single-Center Experience, Jeddah, Saudi Arabia.

Published in:

Clinical Pediatrics, 2023, v. 62, n. 12, p. 1523, doi. 10.1177/00099228231163511

By:

Al Qurashi, Mansour;
Alahmadi, Shima;
Mustafa, Ahmed;
Aga, Syed Sameer;
Al Hindi, Mohammed;
Ahmed, Abrar;
Mohammad, Hadeel;
ElSharabasy, Rasha;
Abed, Sara;
AlThubaiti, Iman;
Alrashdi, Nabila

Publication type:

Article

CASES OF INBORN ERRORS OF METABOLISM DIAGNOSED IN CHILDREN WITH AUTISM.

Published in:

Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 1/2, p. 67, doi. 10.18071/isz.74.0067

By:

ÇAKAR, Nafiye Emel;
YILMAZBAŞ, Pınar

Publication type:

Article

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 11, p. 3847, doi. 10.3390/ijms21113847

By:

Mosegaard, Signe;
Dipace, Graziana;
Bross, Peter;
Carlsen, Jasper;
Gregersen, Niels;
Olsen, Rikke Katrine Jentoft

Publication type:

Article

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Published in:

Frontiers in Genetics, 2020, v. 10, p. 1, doi. 10.3389/fgene.2019.01302

By:

Zhang, Wanqiao;
Yang, Yao;
Peng, Wei;
Chang, Juan;
Mei, Yabo;
Yan, Lei;
Chen, Yuhan;
Wei, Xiujuan;
Liu, Yabin;
Wang, Yan;
Feng, Zhichun

Publication type:

Article

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.582160

By:

Ortigoza-Escobar, Juan Darío

Publication type:

Article

Vrodené poruchy metabolizmu s neurologickými prejavmi v dospelom veku.

Published in:

Neurologie Pro Praxi, 2025, v. 26, n. 1, p. 43, doi. 10.36290/neu.2025.009

By:

Petrovič, Robert

Publication type:

Article

A Study of Sick Newborn for Inborn Error of Metabolism by Tandem Mass Spectrometry.

Published in:

Journal of Neonatology, 2022, v. 36, n. 2, p. 125, doi. 10.1177/09732179221100447

By:

Bhautara, Rahul;
Agarwal, Kamlesh Kumar;
Gupta, Ashok;
Goyal, Manisha;
Kapoor, Seema

Publication type:

Article

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study.

Published in:

Health & Quality of Life Outcomes, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1477-7525-11-158

By:

Fabre, Alexandre;
Baumstarck, Karine;
Cano, Aline;
Loundou, Anderson;
Berbis, Julie;
Chabrol, Brigitte;
Auquier, Pascal

Publication type:

Article

Updated Gene Therapy for Renal Inborn Errors of Metabolism.

Published in:

Genes, 2025, v. 16, n. 5, p. 516, doi. 10.3390/genes16050516

By:

Hergenrother, Sean;
Husein, Mustafa;
Thompson, Cole;
Kalina, Ethan;
Raina, Rupesh

Publication type:

Article

Hematopoietic stem cell transplantation in children with inborn errors of metabolism -- experience of Polish Pediatric Stem Cell Transplantation Group.

Published in:

Acta Haematologica Polonica, 2025, v. 56, n. 2, p. 99, doi. 10.5603/ahp.102954

By:

Drabko, Katarzyna;
Homa, Wojciech Stanisław;
Wanat, Joanna;
Homa, Piotr Karol;
Fałkowska, Anna;
Mielcarek-Siedziuk, Monika;
Frączkiewicz, Jowita;
Deręgowski, Maksymilian;
Wachowiak, Jacek;
Goździk, Jolanta;
Kałwak, Krzysztof

Publication type:

Article