Works matching DE "METHYLMALONIC acid"

Results: 238

P-191 - Case report of methylmalonic acidemia and homocysteinemia with bipolar disorder and literature review

Published in:

2012

By:

Liu, X.

Publication type:

Abstract

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

Published in:

European Review for Medical & Pharmacological Sciences, 2022, v. 26, n. 14, p. 5136

By:

BURLINA, A.;
BETTOCCHI, I.;
BIASUCCI, G.;
BORDUGO, A.;
GASPERINI, S.;
LA SPINA, L.;
MAINES, E.;
MELI, C.;
MENNI, F.;
PACI, S.;
PROCOPIO, E.;
ROSSI, A.;
RUBERT, L.;
SPADA, M.;
TUBILI, F.;
TUMMOLO, A.

Publication type:

Article

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00726

By:

Zhou, Wei;
Li, Huizhong;
Wang, Chuanxia;
Wang, Xiuli;
Gu, Maosheng

Publication type:

Article

Tumor-produced and aging-associated oncometabolite methylmalonic acid promotes cancer-associated fibroblast activation to drive metastatic progression.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33862-0

By:

Li, Zhongchi;
Low, Vivien;
Luga, Valbona;
Sun, Janet;
Earlie, Ethan;
Parang, Bobak;
Shobana Ganesh, Kripa;
Cho, Sungyun;
Endress, Jennifer;
Schild, Tanya;
Hu, Mengying;
Lyden, David;
Jin, Wenbing;
Guo, Chunjun;
Dephoure, Noah;
Cantley, Lewis C.;
Laughney, Ashley M.;
Blenis, John

Publication type:

Article

Hipervitaminosis B12 persistente.

Published in:

AMF: Actualización en Medicina de Familia, 2022, v. 18, n. 9, p. 520

By:

García Rodríguez, Ana María;
Sánchez Velasco, Miguel J.

Publication type:

Article

Specific plasma metabolite profile in intestinal Behçet's syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03484-4

By:

Hou, Cheng-cheng;
Bao, Hua-fang;
She, Chun-hui;
Chen, Hua-yu;
Pan, Guan-xing;
Chen, Hua-ning;
Rui, Hong-bing

Publication type:

Article

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03468-4

By:

Yap, Sufin;
Gasperini, Serena;
Matsumoto, Shirou;
Feillet, François

Publication type:

Article

Correction.

Published in:: 2024
Publication type:: Correction Notice

Functional vitamin B12 deficiency is a consistent feature in hospital admissions for neurological disorders due to the use of nitrous oxide.

Published in:

Clinical Toxicology (15563650), 2023, v. 61, n. 9, p. 674, doi. 10.1080/15563650.2023.2274282

By:

Mondesert, Etienne;
Eiden, Céline;
Peyriere, Hélène;
Formoso, Aude;
Corti, Lucas;
Cristol, Jean-Paul;
Badiou, Stéphanie

Publication type:

Article

Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.

Published in:

Expert Review of Endocrinology & Metabolism, 2012, v. 7, n. 3, p. 263, doi. 10.1586/EEM.12.17

By:

Häberle, Johannes

Publication type:

Article

Long-Term Proton Pump Inhibitor–Acid Suppressive Treatment Can Cause Vitamin B 12 Deficiency in Zollinger–Ellison Syndrome (ZES) Patients.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7286, doi. 10.3390/ijms25137286

By:

Ito, Tetsuhide;
Ramos-Alvarez, Irene;
Jensen, Robert T.

Publication type:

Article

Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 4998, doi. 10.3390/ijms21144998

By:

Costanzo, Michele;
Caterino, Marianna;
Cevenini, Armando;
Jung, Vincent;
Chhuon, Cerina;
Lipecka, Joanna;
Fedele, Roberta;
Guerrera, Ida Chiara;
Ruoppolo, Margherita

Publication type:

Article

MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 11, p. 2631, doi. 10.3390/ijms20112631

By:

Andréasson, Mattias;
Zetterström, Rolf H.;
von Döbeln, Ulrika;
Wedell, Anna;
Svenningsson, Per

Publication type:

Article

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

Published in:

2017

By:

Abily-Donval, Lenaig;
Torre, Stéphanie;
Samson, Aurélie;
Sudrié-Arnaud, Bénédicte;
Acquaviva, Cécile;
Guerrot, Anne-Marie;
Benoist, Jean-François;
Marret, Stéphane;
Bekri, Soumeya;
Tebani, Abdellah

Publication type:

Case Study

Hypertension may lead to cognitive dysfunction in older adults via methylmalonic acid: evidence from NHANES 2011–2014 population.

Published in:

BMC Geriatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12877-024-05599-6

By:

Xu, Ying;
Chen, Rucheng;
Torkki, Paulus;
Zheng, Weijun;
Chen, An

Publication type:

Article

Vitamin B12 and folate tests: the ongoing need to determine appropriate use and public funding.

Published in:

2013

By:

Willis, Cameron D.;
Metz, Michael P.;
Hiller, Janet E.;
Elshaug, Adam G.

Publication type:

Opinion

In vivo assignment of methylmalonic acid in breast tissue using 2D MRS and relationship with breast density, menopausal status and cancer risk.

Published in:

NMR in Biomedicine, 2023, v. 36, n. 3, p. 1, doi. 10.1002/nbm.4851

By:

Santamaría, Gorane;
Naude, Natali;
Bennett, Ian;
Vosburgh, Kirby;
Ganau, Sergi;
Bargalló, Xavier;
Malycha, Peter;
Mountford, Carolyn

Publication type:

Article

UNDERSTANDING VITAMIN B12.

Published in:

Journal of Stomatology, 2019, v. 72, n. 4, p. 184, doi. 10.5114/jos.2019.91237

By:

Hüpsch-Marzec, Hanna M.;
Pawlak, Roman;
Skaba, Dariusz

Publication type:

Article

Anesthetic management of a patient with methylmalonic acidemia: a case report.

Published in:

JA Clinical Reports, 2018, v. 4, n. 1, p. 1, doi. 10.1186/s40981-018-0209-7

By:

Uemura, Yuta;
Kakuta, Nami;
Tanaka, Katsuya;
Tsutsumi, Yasuo M.

Publication type:

Article

Lipophilic fullerenes.

Published in:

Russian Journal of Organic Chemistry, 2015, v. 51, n. 8, p. 1057, doi. 10.1134/S1070428015080011

By:

Torosyan, S.;
Mikheev, V.;
Biglova, Yu.;
Miftakhov, M.

Publication type:

Article

Implementation of the serum/plasma methylmalonic acid test at the London Health Sciences Centre.

Published in:

Western Undergraduate Research Journal: Health & Natural Sciences, 2015, v. 5, n. 1, p. 10, doi. 10.5206/wurjhns.2014-15.11

By:

Injun Seo;
Khan, Zia A.;
Smith, Norman

Publication type:

Article

Scientific Opinion on Dietary Reference Values for cobalamin (vitamin B12).

Published in:: EFSA Journal, 2015, v. 13, n. 7, p. 4150, doi. 10.2903/j.efsa.2015.4150
Publication type:: Article

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees.

Published in:

Cell Journal (Yakhteh), 2016, v. 18, n. 3, p. 397

By:

Ahmadloo, Somayeh;
Talebi, Saeed;
Miryounesi, Mohammad;
Pasalar, Parvin;
Keramatipour, Mohammad

Publication type:

Article

MMAB promotes negative feedback control of cholesterol homeostasis.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26787-7

By:

Goedeke, Leigh;
Canfrán-Duque, Alberto;
Rotllan, Noemi;
Chaube, Balkrishna;
Thompson, Bonne M.;
Lee, Richard G.;
Cline, Gary W.;
McDonald, Jeffrey G.;
Shulman, Gerald I.;
Lasunción, Miguel A.;
Suárez, Yajaira;
Fernández-Hernando, Carlos

Publication type:

Article

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.

Published in:

Science Translational Medicine, 2022, v. 14, n. 646, p. 1, doi. 10.1126/scitranslmed.abn4772

By:

Head, PamelaSara E.;
Myung, Sangho;
Chen, Yong;
Schneller, Jessica L.;
Wang, Cindy;
Duncan, Nicholas;
Hoffman, Pauline;
Chang, David;
Gebremariam, Abigael;
Gucek, Marjan;
Manoli, Irini;
Venditti, Charles P.

Publication type:

Article

A Case of Subacute Combined Degeneration of Spinal Cord Diagnosed by Vitamin B12 Administration Lowering Methylmalonic Acid.

Published in:

Case Reports in Neurology, 2020, v. 12, n. 1, p. 27, doi. 10.1159/000505321

By:

Daisuke Hara;
Masashi Akamatsu;
Heisuke Mizukami;
Bunta Kato;
Takaaki Suzuki;
Jun Oshima;
Yasuhiro Hasegawa

Publication type:

Article

One Carbon Metabolism and Cognitive Impairment in Older Indians.

Published in:

Journal of the Indian Academy of Geriatrics, 2019, v. 15, n. 4, p. 209

By:

Aryal, Ananta;
Dey, A. B.

Publication type:

Article

Deficit vitaminu B12 – další výzva k rozšíření novorozeneckého laboratorního screeningu?

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2024, v. 79, n. 3, p. 145, doi. 10.55095/cspediatrie2024/024

By:

Samuel, Stanovský;
Josef, Bártl;
Kristýna, Barvíková;
Petr, Chrastina;
Jakub, Krijt;
Jitka, Sokolová;
Klára, Berková;
Zbyněk, Straňák;
Katarína, Tichá;
Jan, Janota;
Mária, Eliášová;
Richard, Plavka;
Jiří, Zach;
Viktor, Kožich;
Tomáš, Honzík

Publication type:

Article

Nitrous‐oxide‐induced polyneuropathy and subacute combined degeneration of the spine: clinical and diagnostic characteristics in 70 patients, with focus on electrodiagnostic studies.

Published in:

European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16076

By:

Hassing, L. T.;
Jiang, F. Y.;
Zutt, R.;
Arends, S.

Publication type:

Article

Association between neuropathy and B‐vitamins: A systematic review and meta‐analysis.

Published in:

European Journal of Neurology, 2021, v. 28, n. 6, p. 2054, doi. 10.1111/ene.14786

By:

Stein, Johannes;
Geisel, Juergen;
Obeid, Rima

Publication type:

Article

Report on the heterozygosis mutations of c.567dupT, p.(Ilel90Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.

Published in:

Pakistan Journal of Pharmaceutical Sciences, 2016, v. 29, p. 1109

By:

Kai Liu;
Guohong Chen;
Yanli Ma;
Yixin Xian;
Zhang Zhang

Publication type:

Article

Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency.

Published in:

Acta Paediatrica, 2022, v. 111, n. 12, p. 2315, doi. 10.1111/apa.16530

By:

Ljungblad, Ulf Wike;
Lindberg, Morten;
Eklund, Erik A.;
Saeves, Ingjerd;
Bjørke‐Monsen, Anne‐Lise;
Tangeraas, Trine

Publication type:

Article

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.

Published in:

2017

By:

Jinrong Liu;
Yun Peng;
Nan Zhou;
Xiaorong Liu;
Qun Meng;
Hui Xu;
Shunying Zhao;
Liu, Jinrong;
Peng, Yun;
Zhou, Nan;
Liu, Xiaorong;
Meng, Qun;
Xu, Hui;
Zhao, Shunying

Publication type:

Case Study

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98

By:

Marcadier, Julien L.;
Smith, Amanda M.;
Pohl, Daniela;
Schwartzentruber, Jeremy;
Al-Dirbashi, Osama Y.;
Majewski, Jacek;
Ferdinandusse, Sacha;
Wanders, Ronald J. A.;
Bulman, Dennis E.;
Boycott, Kym M.;
Chakraborty, Pranesh;
Geraghty, Michael T.

Publication type:

Article

IDENTIFICATION OF A NOVEL MUTATION IN THE MMAA GENE IN A CHINESE BOY WITH ISOLATED METHYLMALONIC ACIDEMIA.

Published in:

Acta Endocrinologica (1841-0987), 2020, v. 16, n. 2, p. 242, doi. 10.4183/aeb.2020.242

By:

Tang, D.;
Chen, G.;
Liu, S.

Publication type:

Article

Role of serum holotranscobalamin (holoTC) in the diagnosis of patients with low serum cobalamin. Comparison with methylmalonic acid and homocysteine.

Published in:

Annals of Hematology, 2014, v. 93, n. 4, p. 565, doi. 10.1007/s00277-013-1905-z

By:

Remacha, A.;
Sardà, M.;
Canals, C.;
Queraltò, J.;
Zapico, E.;
Remacha, J.;
Carrascosa, C.

Publication type:

Article

Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband.

Published in:

Journal of Genetics, 2015, v. 94, n. 2, p. 295, doi. 10.1007/s12041-015-0520-2

By:

PALEJA, AMEYA;
UDUMUDI, ANURADHA

Publication type:

Article

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01122-x

By:

Chen, Ru-Yue;
Li, Xiao-Zhong;
Lin, Qiang;
Zhu, Yun;
Shen, Yun-Yan;
Xu, Qin-Ying;
Zhu, Xue-Ming;
Chen, Lin-Qi;
Wu, Hai-Ying;
Chen, Xu-Qin

Publication type:

Article

Assessment of cellular cobalamin metabolism in Gaucher disease.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0947-z

By:

Basgalupp, Suelen Porto;
Siebert, Marina;
Ferreira, Charles;
Behringer, Sidney;
Spiekerkoetter, Ute;
Hannibal, Luciana;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0731-5

By:

Wang, Wenjie;
Yang, Jianping;
Xue, Jinjie;
Mu, Wenjuan;
Zhang, Xiaogang;
Wu, Wang;
Xu, Mengnan;
Gong, Yuyan;
Liu, Yiqian;
Zhang, Yu;
Xie, Xiaobing;
Gu, Weiyue;
Bai, Jigeng;
Cram, David S.

Publication type:

Article

Vitamin B12 and folate levels in healthy Swiss senior citizens: a prospective study evaluating reference intervals and decision limits.

Published in:

BMC Geriatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12877-015-0060-x

By:

Risch, Martin;
Meier, Dominik W.;
Sakem, Benjamin;
Escobar, Pedro Medina;
Risch, Corina;
Nydegger, Urs;
Risch, Lorenz

Publication type:

Article

Vitamin B12-Related Biomarkers.

Published in:

Food & Nutrition Bulletin, 2024, v. 45, p. S28, doi. 10.1177/03795721241227114

By:

Nexo, Ebba;
Parkner, Tina

Publication type:

Article

Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.

Published in:

Journal of Neurology, 2023, v. 270, n. 4, p. 2237, doi. 10.1007/s00415-023-11570-z

By:

Grzych, Guillaume;
Deheul, Sylvie;
Gernez, Emeline;
Davion, Jean-Baptiste;
Dobbelaere, Dries;
Carton, Louise;
Kim, Isabelle;
Guichard, Jean Claude;
Girot, Marie;
Humbert, Linda;
Bennis, Anas;
Joncquel, Marie;
Chieux, Vincent;
Joly, Audrey;
Nasserdine, Phénicia;
Trillot, Nathalie;
Douillard, Claire;
Pigny, Pascal;
Tard, Céline

Publication type:

Article

A rise in cases of nitrous oxide abuse: neurological complications and biological findings.

Published in:

2022

By:

Einsiedler, Maximilian;
Voulleminot, Paul;
Demuth, Stanislas;
Kalaaji, Pauline;
Bogdan, Thomas;
Gauer, Lucas;
Reschwein, Cécile;
Nadaj-Pakleza, Aleksandra;
de Sèze, Jérôme;
Kremer, Laurent;
Schroder, Ivana;
Bigaut, Kévin

Publication type:

Case Study

Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.

Published in:

Journal of Neurology, 2019, v. 266, n. 10, p. 2434, doi. 10.1007/s00415-019-09432-8

By:

Wei, Yanping;
Zhou, Yan;
Yuan, Jing;
Ni, Jun;
Qian, Min;
Cui, Liying;
Peng, Bin

Publication type:

Article

Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier.

Published in:

2015

By:

McLauchlan, Gerard;
McLaughlin, Angela;
Sewell, Adrian C.;
Bell, Rory

Publication type:

Case Study

LC–MS‐Based Simultaneous Determination of Biomarkers in Dried Urine Spots for the Detection of Cofactor‐Dependent Metabolic Disorders in Neonates.

Published in:

Journal of Separation Science, 2024, v. 47, n. 22, p. 1, doi. 10.1002/jssc.70031

By:

Raveendran, Arya;
Gupta, Ashutosh;
Lewis, Leslie E.;
Prabhu, Krishnananda;
Moorkoth, Sudheer

Publication type:

Article

Determination of Reference Range for B12 and Folate Levels According to Laboratory Data in an Adult Population.

Published in:

Bagcilar Medical Bulletin / Bağcılar Tıp Bülteni, 2020, v. 5, n. 4, p. 160, doi. 10.4274/BMB.galenos.2020.07.031

By:

Alpdemir, Medine;
Alpdemir, Mehmet Fatih

Publication type:

Article

A Case Report of Nitrous Oxide-induced Myelopathy: An Unusual Cause of Weakness in an Emergency Department.

Published in:

2023

By:

Birch, Madeleine S.;
Samones, Emmelyn J.;
Phan, Tammy;
Guptill, Mindi

Publication type:

Case Study

Rapid Underivatized Method for Quantitative Methylmalonic Acid by Liquid Chromatography--Tandem Mass Spectrometry.

Published in:

Journal of Applied Laboratory Medicine, 2018, p. 408, doi. 10.1373/jalm.2018.026724

By:

Mak, Justin;
Wong, Beverly T.;
Kwan, Tony;
Le, Anthony;
Cowan, Tina M.

Publication type:

Article