Works matching DE "GLUTARIC aciduria"

Results: 42

Anaesthesia Management of a Pregnant Woman with Glutaric Aciduria Type 1 Undergoing Cesarean Section.

Published in:

Turkish Journal of Anaesthesiology & Reanimation, 2025, v. 53, n. 1, p. 28, doi. 10.4274/TJAR.2025.241705

By:

Demirel, Yağmur;
Kesici, Sevgi;
Kaya, Celal;
Oba, Sibel;
Türk, Hacer Şebnem

Publication type:

Article

Management of pregnancy and childbirth in a patient with glutaric aciduria type II.

Published in:

Minerva Obstetrics & Gynecology, 2024, v. 76, n. 1, p. 102, doi. 10.23736/S2724-606X.22.05121-1

By:

RESTAINO, Stefano;
SALA, Alessia;
ANGELINI, Marta;
ZANIN, Valentina;
POLI, Alice;
ANGELI, Cristina;
FERRARA, Francesca;
PEZZARINI, Vanni;
VIZZIELLI, Giuseppe;
DRIUL, Lorenza

Publication type:

Article

Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 10, p. 1771, doi. 10.1111/epi.13862

By:

Vendramin Pasquetti, Mayara;
Meier, Letícia;
Loureiro, Samanta;
Ganzella, Marcelo;
Junges, Bernardo;
Barbieri Caus, Letícia;
Umpierrez Amaral, Alexandre;
Koeller, David M.;
Goodman, Stephen;
Woontner, Michael;
Gomes de Souza, Diogo Onofre;
Wajner, Moacir;
Calcagnotto, Maria Elisa

Publication type:

Article

Selective, Accurate, and Precise Quantitation of Glutarylcarnitine in Human Urine from a Patient with Glutaric Acidemia Type I.

Published in:

Journal of Applied Laboratory Medicine, 2017, p. 335, doi. 10.1373/jalm.2017.024281

By:

Minkler, Paul E.;
Stoll, Maria S. K.;
Ingalls, Stephen T.;
Hoppel, Charles L.

Publication type:

Article

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 13, n. 2, p. 560, doi. 10.3892/etm.2016.4007

By:

XIAOYING ZHANG;
QIONG LUO

Publication type:

Article

A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1.

Published in:

2014

By:

Pusti, S.;
Das, N.;
Nayek, K.;
Biswas, S.

Publication type:

Case Study

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Published in:

2015

By:

Mohamed, Sarar;
Hamad, Muddathir H.;
Hassan, Hamdy H.;
Salih, Mustafa A.

Publication type:

Case Study

Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience.

Published in:

Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 11, p. 1, doi. 10.7860/JCDR/2017/30976.10834

By:

Singh, Ankur;
Prasad, Rajniti;
Kapoor, Seema;
Mishra, Om Prakash

Publication type:

Article

Difficult Management of Glucose Homeostasis in a 21-Month-Old Child With Type 1 Diabetes and Unknown Glutaric Aciduria Type I: A Case Report.

Published in:

2013

By:

MARIGLIANO, MARCO;
ANTON, GENAN;
SABBION, ALBERTO;
MORANDI, ANITA;
MORANDI, GRAZIA;
DEGANI, DANIELA;
MAFFEIS, CLAUDIO

Publication type:

Letter

Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.

Published in:

Molecular & Cellular Biochemistry, 2015, v. 402, n. 1/2, p. 149, doi. 10.1007/s11010-014-2322-x

By:

Santos Mello, Mariana;
Wajner, Moacir;
Vargas, Carmen;
Ribas, Graziela;
Wayhs, Carlos;
Hammerschmidt, Tatiane;
Guerreiro, Gilian;
Favenzani, Jéssica;
Sitta, Ângela;
Moura Coelho, Daniella

Publication type:

Article

Perioperative management of a patient with glutaric aciduria: A case report and literature review.

Published in:

2015

By:

Hakim, Mumin;
Martin, David P.;
Beebe, Allan;
Klamar, Jan;
Tobias, Joseph D.

Publication type:

Case Study

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.

Published in:

2016

By:

Del Rizzo, Monica;
Galderisi, Alfonso;
Celato, Andrea;
Furlan, Francesca;
Giordano, Laura;
Cazzorla, Chiara;
Fasan, Ilaria;
Moretti, Carlo;
Zschocke, Johannes;
Burlina, Alberto;
Burlina, Alberto B

Publication type:

journal article

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Published in:

2016

By:

Vester, Marloes;
Visser, Gepke;
Wijburg, Frits;
Spronsen, Francjan;
Williams, Monique;
Rijn, Rick;
Vester, Marloes E M;
Wijburg, Frits A;
van Spronsen, Francjan J;
van Rijn, Rick R

Publication type:

journal article

Metabolic Disturbances in Diseases with Neurological Involvement.

Published in:

Aging & Disease, 2014, v. 5, n. 4, p. 238, doi. 10.14336/AD.2014.0500238

By:

Duarte, João M. N.;
Schuck, Patrícia F.;
Wenk, Gary L.;
Ferreira, Gustavo C.

Publication type:

Article

Promising outcomes in glutaric aciduria type I patients detected by newborn screening.

Published in:

Metabolic Brain Disease, 2013, v. 28, n. 1, p. 61, doi. 10.1007/s11011-012-9349-z

By:

Lee, Chee-Seng;
Chien, Yin-Hsiu;
Peng, Shinn-Forng;
Cheng, Pin-Wen;
Chang, Lih-Maan;
Huang, Ai-Chu;
Hwu, Wuh-Liang;
Lee, Ni-Chung

Publication type:

Article

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

Published in:

2015

By:

Boy, Nikolas;
Heringer, Jana;
Haege, Gisela;
Glahn, Esther M.;
Hoffmann, Georg F.;
Garbade, Sven F.;
Kölker, Stefan;
Burgard, Peter

Publication type:

journal article

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-167

By:

Pfeil, Johannes;
Listl, Stefan;
Hoffmann, Georg F.;
Kölker, Stefan;
Lindner, Martin;
Burgard, Peter

Publication type:

Article

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.

Published in:

Lipids in Health & Disease, 2017, v. 16, p. 1, doi. 10.1186/s12944-017-0576-5

By:

Ying Xue;
Yun Zhou;
Keqin Zhang;
Ling Li;
Abudurexiti Kayoumu;
Liye Chen;
Yuhui Wang;
Zhiqiang Lu

Publication type:

Article

Microcephaly with generalized dystonia: Exception to the rule.

Published in:

2017

By:

Saini, Lokesh;
Chakrabarty, Biswaroop;
Kumar, Atin;
Gulati, Sheffali

Publication type:

journal article

Anesthetic management for fracture head of radius in a child with glutaric aciduria type-1.

Published in:

Anesthesia: Essays & Researches, 2018, v. 12, n. 2, p. 601, doi. 10.4103/aer.AER_34_18

By:

Mehta, Nandita;
Kaur, Gurleen

Publication type:

Article

Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.

Published in:

European Journal of Endocrinology, 2012, v. 166, n. 2, p. 235, doi. 10.1530/EJE-11-0785

By:

Akamizu, Takashi;
Sakura, Nobuo;
Shigematsu, Yosuke;
Tajima, Go;
Ohtake, Akira;
Hosoda, Hiroshi;
Iwakura, Hiroshi;
Ariyasu, Hiroyuki;
Kangawa, Kenji

Publication type:

Article

An infant with glutaric aciduria type IIc diagnosed with a novel mutation.

Published in:

Turkish Journal of Pediatrics, 2017, v. 59, n. 3, p. 315, doi. 10.24953/turkjped.2017.03.013

By:

Işıkay, Sedat;
Yaman, Ayhan;
Ceylaner, Serdar

Publication type:

Article

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke.

Published in:

2018

By:

Demailly, Diane;
Vianey‐saban, Christine;
Acquaviva, Cécile;
Gonzalez, Victoria;
Rubio, Isabel De Antonio;
Cyprien, Fabienne;
Roujeau, Thomas;
Masoliver, Adria;
Leboucq, Nicolas;
Coubes, Philippe;
Cif, Laura

Publication type:

Case Study

Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency ( GA1): Report of Two Cases.

Published in:

Movement Disorders Clinical Practice, 2016, v. 3, n. 3, p. 296, doi. 10.1002/mdc3.12278

By:

Ghatan, Saadi;
Kokoszka, Malgosia A.;
Ranney, Anne M.;
Strauss, Kevin A.

Publication type:

Article

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Published in:

2018

By:

Boy, Nikolas;
Mengler, Katharina;
Thimm, Eva;
Schiergens, Katharina A.;
Marquardt, Thorsten;
Weinhold, Natalie;
Marquardt, Iris;
Das, Anibh M.;
Freisinger, Peter;
Grünert, Sarah C.;
Vossbeck, Judith;
Steinfeld, Robert;
Baumgartner, Matthias R.;
Beblo, Skadi;
Dieckmann, Andrea;
Näke, Andrea;
Lindner, Martin;
Heringer, Jana;
Hoffmann, Georg F.;
Mühlhausen, Chris

Publication type:

journal article

Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.

Published in:

Clinical Case Reports, 2017, v. 5, n. 8, p. 1303, doi. 10.1002/ccr3.1054

By:

Peer‐Zada, Abdul Ali;
Al‐Asmari, Ali M.

Publication type:

Article

Clinical features and course of glutaric aciduria-Report of six cases.

Published in:

2015

By:

Chandra, Sadanandavalli Retnaswami;
Issac, Thomas Gregor;
Christopher, Rita

Publication type:

Letter to the Editor

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119540

By:

Rzem, Rim;
Achouri, Younes;
Marbaix, Etienne;
Schakman, Olivier;
Wiame, Elsa;
Marie, Sandrine;
Gailly, Philippe;
Vincent, Marie-Françoise;
Veiga-da-Cunha, Maria;
Van Schaftingen, Emile

Publication type:

Article

Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins.

Published in:

PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087715

By:

Schmiesing, Jessica;
Schlüter, Hartmut;
Ullrich, Kurt;
Braulke, Thomas;
Mühlhausen, Chris

Publication type:

Article

Effects of Targeted Suppression of Glutaryl-CoA Dehydrogenase by Lentivirus-Mediated shRNA and Excessive Intake of Lysine on Apoptosis in Rat Striatal Neurons

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063084

By:

Gao, Jinzhi;
Zhang, Cai;
Fu, Xi;
Yi, Qin;
Tian, Fengyan;
Ning, Qin;
Luo, Xiaoping

Publication type:

Article

Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type I.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053735

By:

Jafari, Paris;
Braissant, Olivier;
Zavadakova, Petra;
Henry, Hugues;
Bonafé, Luisa;
Ballhausen, Diana

Publication type:

Article

Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1699, doi. 10.1007/s11011-018-0278-3

By:

Thirumal Kumar, D.;
Jerushah Emerald, L.;
George Priya Doss, C.;
Sneha, P.;
Siva, R.;
Charles Emmanuel Jebaraj, W.;
Zayed, Hatem

Publication type:

Article

Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 2, p. 537, doi. 10.1007/s11011-018-0196-4

By:

Thomas, Angeline;
Dobbels, Els F. M.;
Springer, Priscilla E.;
Ackermann, Christelle;
Cotton, Mark F.;
Laughton, Barbara

Publication type:

Article

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1417, doi. 10.1007/s11011-017-0006-4

By:

Mosaeilhy, Ahmed;
Mohamed, Magdy;
C, George;
El Abd, Heba;
Gamal, Radwa;
Zaki, Osama;
Zayed, Hatem

Publication type:

Article

L-2 Hydroxyglutaric Aciduria and Anaplastic Oligodendroglioma: a Rare Association.

Published in:

2018

By:

İnan, İbrahim;
Atalay, Başak;
Aslan, Ahmet;
Baysal, Begümhan;
Yıkılmaz, Ali

Publication type:

Case Study

Acquired Protein Energy Malnutrition in Glutaric Acidemia.

Published in:

Pediatric Dermatology, 2013, v. 30, n. 4, p. 502, doi. 10.1111/pde.12067

By:

Ma, Liqiao;
Savory, Stephanie;
Agim, Nnenna G.

Publication type:

Article

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report.

Published in:

2015

By:

Zielonka, Matthias;
Braun, Katrin;
Bengel, Andreas;
Seitz, Angelika;
Kölker, Stefan;
Boy, Nikolas

Publication type:

Case Study

Glutaric Aciduria Type II Presenting as Myopathy and Rhabdomyolysis in a Teenager.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 1, p. 96, doi. 10.1177/0883073813516676

By:

Prasad, Manish;
Hussain, Shanawaz

Publication type:

Article

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Published in:

2017

By:

Boy, Nikolas;
Heringer, Jana;
Brackmann, Renate;
Bodamer, Olaf;
Seitz, Angelika;
Kölker, Stefan;
Harting, Inga

Publication type:

journal article

Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.

Published in:

Forensic Science, Medicine & Pathology, 2015, v. 11, n. 3, p. 405, doi. 10.1007/s12024-015-9698-0

By:

Vester, Marloes;
Bilo, Rob;
Karst, Wouter;
Daams, Joost;
Duijst, Wilma;
Rijn, Rick

Publication type:

Article

L-2-Hydroxyglutaric Aciduria: Report of Four Turkish Patients from the Same Family.

Published in:

Journal of Neurological Sciences, 2016, v. 33, n. 3, p. 494

By:

YALCIN, A. Destina;
TEKTURK, Pinar;
YAPICI, Zuhal

Publication type:

Article

Glutaric Acidemia Type II Associated with Bipolar Affective Disorder.

Published in:

German Journal of Psychiatry, 2011, v. 14, n. 1, p. 48

By:

Nanjundappa, Girish Babu;
Desai, Geetha;
Kumar, Chaturvedi Santosh

Publication type:

Article