inborn errors of metabolism

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1
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.
Olgac, A;Tekin, Orgun L;Ezgü, F S;Biberoǧlu, G;Tümer, L;
2019 balkan journal of medical genetics : bjmg DOI: 10.2478/bjmg-2019-00... 194 views
2
A Two-step Technique for Neo-umbilicoplasty in the Abdominal Reconstructive Population.
Ngaage, Ledibabari M;Kokosis, George;Kachniarz, Bartlomiej;Pedreira, Rachel;Rada, Erin M;Nam, Arthur...
2019 plastic and reconstructive surgery global open DOI: 10.1097/GOX.00000000... 206 views
3
A review of venovenous haemofiltration in seriously ill infants
J. H. Reeves,W. B. Butt,A. S. Sathe;J. H. Reeves;W. B. Butt;A. S. Sathe;
1994 journal of paediatrics and child health DOI: 10.1111/j.1440-1754.... 169 views
4
clinical characteristics of adult patients with inborn errors of metabolism in spain: a review of 500 cases from university hospitals
;J. Pérez-López;L. Ceberio-Hualde;J.S. García-Morillo;J.M. Grau-Junyent;A. Hermida Ameijeiras;M. Lóp...
2017 advances in skin & wound care DOI: 10.1016/j.ymgmr.2017... 167 views
5
membrane transporters in a human genome-scale metabolic knowledgebase and their implications for disease
;Swagatika eSahoo;Swagatika eSahoo;Maike Kathrin Aurich;Jon Johannes Jonsson;Ines eThiele;Ines eThie...
2014 Journal of clinical and experimental dentistry DOI: 10.3389/fphys.2014.0... 161 views
6
Psychiatric Disorders Secondary to Neurometabolic Disorders.
Herrera, Paula M;Vélez Van Meerbeke, Alberto;Bonnot, Olivier;
revista colombiana de psiquiatria DOI: S0034-7450(17)30060-... 220 views
7
Screening for Inborn Errors of Metabolism
Elshaari, F.A.;Agela, A.E.;Alshaari, A.A.;Muftah, S.S;
2013 international journal of biomedicine 202 views
8
Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
Srivastava, Siddharth;Sahin, Mustafa;
2017 journal of neurodevelopmental disorders 328 views
9
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
Zahoor, Muhammad Yasir;Cheema, Huma Arshad;Ijaz, Sadaqat;Anjum, Muhammad Nadeem;Ramzan, Khushnooda;B...
2019 journal of pediatric endocrinology & metabolism :... DOI: 10.1515/jpem-2019-01... 147 views
10
Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.
Wasim, Muhammad;Khan, Haq Nawaz;Ayesha, Hina;Goorden, Susanna M I;Vaz, Frederic M;van Karnebeek, Cla...
2019 frontiers in neurology DOI: 10.3389/fneur.2019.0... 189 views
11
Characterization of Liver-Specific Functions of Human Fetal Hepatocytes in Culture.
Chinnici, Cinzia Maria;Timoneri, Francesca;Amico, Giandomenico;Pietrosi, Giada;Vizzini, Giovanni;Spa...
2015 cell transplantation DOI: 10.3727/096368914X68... 294 views
12
Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology.
Mathew, Elizabeth Mary;Moorkoth, Sudheer;Lewis, Leslie;Rao, Pragna;
2020 bioanalysis DOI: 10.4155/bio-2019-012... 207 views
14
ophthalmologic findings in patients with inborn errors of metabolism
;Guevara Márquez Yamel Carolina;Vela Amieva Marcela;Juárez Echenique Juan Carlos
2014 trac trends in analytical chemistry DOI: 10.18233/APM34No4pp2... 139 views
15
dietary practices in isovaleric acidemia: a european survey
;A. Pinto;A. Daly;S. Evans;M.F. Almeida;M. Assoun;A. Belanger-Quintana;S. Bernabei;S. Bollhalder;D....
2017 advances in skin & wound care DOI: 10.1016/j.ymgmr.2017... 93 views
16
metabolic screening and metabolomics analysis in the intellectual developmental disorders mexico study
;Isabel Ibarra-González;Rocío Rodríguez-Valentín;Eduardo Lazcano-Ponce;Marcela Vela-Amieva
2017 journal of anatomy DOI: 10.21149/8668 151 views

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plastic and reconstructive surgery global open
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seizure tremor l-2-hydroxyglutaric aciduria (l2hga) renal failure continuous venovenous haemofiltration newborn infants adulthood Cancer human metabolismphysiology