Works matching DE "METHYLMALONIC acid"

Results: 255

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-01563-5

By:

Fathi, Mohadeseh;
Khalilian, Sheyda;
Miryounesi, Mohammad;
Ghafouri-Fard, Soudeh

Publication type:

Article

Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature.

Published in:

2018

By:

Ma, Minglei;
Wu, Mingxing;
Li, Yanbin;
Wu, Di;
Zhang, Bingke

Publication type:

Case Study

A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate (GABA) cycle and contributes to MMA-induced excitability.

Published in:

Amino Acids, 2016, v. 48, n. 6, p. 1373, doi. 10.1007/s00726-015-2164-1

By:

Royes, Luiz;
Gabbi, Patrícia;
Ribeiro, Leandro;
Della-Pace, Iuri;
Rodrigues, Fernanda;
Oliveira Ferreira, Ana;
Silveira Junior, Mauro;
Silva, Luís;
Grisólia, Alan;
Braga, Danielle;
Dobrachinski, Fernando;
Silva, Anderson;
Soares, Félix;
Marchesan, Sara;
Furian, Ana;
Oliveira, Mauro;
Fighera, Michele

Publication type:

Article

Serum methylmalonic acid concentrations at breast cancer diagnosis significantly correlate with clinical frailty.

Published in:

GeroScience, 2024, v. 46, n. 2, p. 1489, doi. 10.1007/s11357-023-00908-0

By:

Wu, Qi;
Hatse, Sigrid;
Kenis, Cindy;
Fernández-García, Juan;
Altea-Manzano, Patricia;
Billen, Jaak;
Planque, Mélanie;
Vandekeere, Anke;
Lambrechts, Yentl;
Richard, François;
Punie, Kevin;
Neven, Patrick;
Smeets, Ann;
Nevelsteen, Ines;
Floris, Giuseppe;
Desmedt, Christine;
Gomes, Ana P.;
Fendt, Sarah-Maria;
Wildiers, Hans

Publication type:

Article

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1822

By:

Yu, Yue;
Shuai, Ruixue;
Liang, Lili;
Qiu, Wenjuan;
Shen, Linghua;
Wu, Shengnan;
Wei, Haiyan;
Chen, Yongxing;
Yang, Chiju;
Xu, Peng;
Chen, Xigui;
Zou, Hui;
Feng, Jizhen;
Niu, Tingting;
Hu, Haili;
Ye, Jun;
Zhang, Huiwen;
Lu, Deyun;
Gong, Zhuwen;
Zhan, Xia

Publication type:

Article

Improvement in Growth and Developmental Milestones with Nutritional Intervention in Methylmalonic Acidemia: A Case Report.

Published in:

Proceedings of the National Academy of Sciences of Armenia. Mechanics, 2014, v. 4, n. 4, p. 52

By:

Zilaee, Marzie;
Norouzy, Abdolreza;
Imani, Bahare;
Khademi, Gholamreza;
Safarian, Mohammad

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

Breastfeeding and biomarkers of folate and cobalamin status in Norwegian infants: a cross-sectional study.

Published in:: Journal of Nutritional Science, 2024, v. 13, p. 1, doi. 10.1017/jns.2024.54
Publication type:: Article

Methylmalonic Acidemia with Novel MUT Gene Mutations.

Published in:

2017

By:

Panigrahi, Inusha;
Bhunwal, Savita;
Varma, Harish;
Singh, Simranjeet

Publication type:

Case Study

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1707, doi. 10.1007/s00431-014-2330-6

By:

Gündüz, Mehmet;
Ekici, Filiz;
Özaydın, Eda;
Ceylaner, Serdar;
Perez, Belen

Publication type:

Article

Anesthetic management of a child with methylmalonic acidemia for lens aspiration - a case report.

Published in:

Anaesthesia, Pain & Intensive Care, 2020, v. 24, n. 2, p. 237, doi. 10.35975/apic.v24i2.1262

By:

ul Huda, Anwar;
Yasir, Mohammad

Publication type:

Article

Acute acro-paraesthesia and bilateral clumsy hand syndrome rare presenting manifestation of vitamin B12 deficiency: a case report highlighting clinico-radiological findings at diagnosis and follow-up.

Published in:

Neurology Asia, 2020, v. 25, n. 4, p. 627

By:

Sonu, Sumit.Kumar;
Lalmalani, Yogesh;
Kumar, Sumeet;
Verma, Kamal

Publication type:

Article

The effects of age and sex on reference intervals for cobalamin, homocysteine, and serum and urinary methylmalonic acid in healthy adult dogs.

Published in:

Journal of Veterinary Internal Medicine, 2025, v. 39, n. 1, p. 1, doi. 10.1111/jvim.17250

By:

Proksch, Anna‐Lena;
Schaefer, Sophia;
Dreller, Vanessa;
Langenstein, Judith;
Fingerhut, Ralph;
Bauer, Natali;
Moritz, Andreas

Publication type:

Article

Effect of oral or subcutaneous administration of cyanocobalamin in hypocobalaminemic cats with chronic gastrointestinal disease or exocrine pancreatic insufficiency.

Published in:

Journal of Veterinary Internal Medicine, 2024, v. 38, n. 5, p. 2464, doi. 10.1111/jvim.17195

By:

Chang, Chee‐Hoon;
Lidbury, Jonathan;
Suchodolski, Jan S.;
Steiner, Joerg M.

Publication type:

Article

Serum cobalamin and methylmalonic acid concentrations in juvenile dogs with parvoviral enteritis or other acute enteropathies.

Published in:

Journal of Veterinary Internal Medicine, 2023, v. 37, n. 4, p. 1368, doi. 10.1111/jvim.16736

By:

Hung, Michael;
Heinz, Justin;
Steiner, Jӧrg M.;
Suchodolski, Jan;
Lidbury, Jonathan

Publication type:

Article

Daily oral cyanocobalamin supplementation in Beagles with hereditary cobalamin malabsorption (Imerslund‐Gräsbeck syndrome) maintains normal clinical and cellular cobalamin status.

Published in:

Journal of Veterinary Internal Medicine, 2019, v. 33, n. 2, p. 751, doi. 10.1111/jvim.15380

By:

Kook, Peter H.;
Hersberger, Martin

Publication type:

Article

Prospective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome).

Published in:

Journal of Veterinary Internal Medicine, 2018, v. 32, n. 3, p. 1033, doi. 10.1111/jvim.15090

By:

Kook, Peter Hendrik;
Reusch, C. E.;
Hersberger, M.

Publication type:

Article

Serum Cobalamin and Methylmalonic Acid Concentrations in Hyperthyroid Cats Before and After Radioiodine Treatment.

Published in:

Journal of Veterinary Internal Medicine, 2016, v. 30, n. 2, p. 560, doi. 10.1111/jvim.13918

By:

Geesaman, B.M.;
Whitehouse, W.H.;
Viviano, K.R.

Publication type:

Article

The Relationship of Serum Cobalamin to Methylmalonic Acid Concentrations and Clinical Variables in Cats.

Published in:

Journal of Veterinary Internal Medicine, 2013, v. 27, n. 5, p. 1056, doi. 10.1111/jvim.12152

By:

Worhunsky, P.;
Toulza, O.;
Rishniw, M.;
Berghoff, N.;
Ruaux, C.G.;
Steiner, J.M.;
Simpson, K.W.

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

Metformin Causing Vitamin B12 Deficiency: A Guilty Verdict Without Sufficient Evidence.

Published in:

Diabetes Care, 2014, v. 37, n. 2, p. e22, doi. 10.2337/dc13-2278

By:

Obeid, Rima

Publication type:

Article

Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.

Published in:

2022

By:

Yazıcı, Havva;
Canda, Ebru;
Onay, Hüseyin;
Uçar, Sema Kalkan;
Habif, Sara;
Çoker, Mahmut

Publication type:

Case Study

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Published in:

Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 282, doi. 10.24953/turkjped.2019.02.021

By:

Kasapkara, Çiğdem Seher;
Yılmaz-Keskin, Ebru;
Özbay-Hoşnut, Ferda;
Akçaboy, Meltem;
Polat, Emine;
Olgaç, Asburçe;
Zorlu, Pelin

Publication type:

Article

Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia.

Published in:

Cell Biochemistry & Biophysics, 2013, v. 67, n. 1, p. 185, doi. 10.1007/s12013-013-9532-9

By:

Imataka, George;
Sakamoto, Osamu;
Yamanouchi, Hideo;
Yoshihara, Shigemi;
Omura-Hasegawa, Yuki;
Tajima, Go;
Arisaka, Osamu

Publication type:

Article

Functional vitamin B12 deficiency in advanced malignancy: implications for the management of neuropathy and neuropathic pain.

Published in:

2016

By:

Solomon, Lawrence;
Solomon, Lawrence R

Publication type:

journal article

Unusual Derivatization of Methylmalonic Acid with Pentafluorobenzyl Bromide to a Tripentafluorobenzyl Derivative and Its Stable-Isotope Dilution GC-MS Measurement in Human Urine.

Published in:

Molecules, 2022, v. 27, n. 16, p. 5202, doi. 10.3390/molecules27165202

By:

Bollenbach, Alexander;
Baskal, Svetlana;
Mels, Catharina;
Kruger, Ruan;
Tsikas, Dimitrios

Publication type:

Article

Monitoring Methylmalonic Aciduria by NMR Urinomics.

Published in:

Molecules, 2020, v. 25, n. 22, p. 5312, doi. 10.3390/molecules25225312

By:

Nicolescu, Alina;
Blanita, Daniela;
Boiciuc, Chiril;
Hlistun, Victoria;
Cristea, Mihaela;
Rotaru, Dorina;
Pinzari, Ludmila;
Oglinda, Ana;
Stamati, Adela;
Tarcomnicu, Isabela;
Tutulan-Cunita, Andreea;
Stambouli, Danae;
Gladun, Sergiu;
Revenco, Ninel;
Uşurelu, Natalia;
Deleanu, Calin;
Trujillo, Míriam Pérez;
Athersuch, Toby

Publication type:

Article

Methylmalonic Acidemia Diagnosis by Laboratory Methods.

Published in:

Reports of Biochemistry & Molecular Biology, 2016, v. 5, n. 1, p. 1

By:

Keyfi, Fatemeh;
Talebi, Saeed;
Varasteh, Abdol-Reza

Publication type:

Article

Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia.

Published in:

Reports of Biochemistry & Molecular Biology, 2016, v. 4, n. 2, p. 104

By:

Keyfi, Fatemeh;
Varasteh, Abdolreza

Publication type:

Article

Understanding Neuropathy Features in the Context of Nitrous Oxide Abuse: A Combined Electrophysiological and Metabolic Approach.

Published in:

Biomedicines, 2024, v. 12, n. 2, p. 429, doi. 10.3390/biomedicines12020429

By:

Grzych, Guillaume;
Scuccimarra, Marie;
Plasse, Laura;
Gernez, Emeline;
Cassim, Francois;
Touze, Benjamin;
Girot, Marie;
Bossaert, Cécile;
Tard, Céline

Publication type:

Article

6-18 Yaş Arası Çocuklarda Nütrisyonel Vitamin B12 Eksikliğinde Oral Kobalamin Tedavisinin Etkinliğinin Retrospektif Değerlendirilmesi.

Published in:

Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2023, v. 32, n. 1, p. 8, doi. 10.5336/pediatr.2022-91251

By:

PEHLİVAN, Ali;
ERDURAN, Erol;
BAHADIR, Ayşenur;
REİS, Gökçe Pınar

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

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

CHOLINE CHLORIDE DERIVATIVE-BASED NATURAL DEEP EUTECTIC SOLVENT AS NOVEL GREEN SOLVENT TO EXTRACT COMPONENTS FROM Spilanthes acmella STEM.

Published in:

Rasayan Journal of Chemistry, 2025, v. 18, n. 1, p. 212, doi. 10.31788/RJC.2025.1819014

By:

Widarsih, R. Wiwi;
Maimulyanti, Askal;
Prihadi, Anton Restu;
Nurhidayati, Isna;
Mellisani, Bella;
Puspita, Fitria;
Rachmawati Putri, Fajar Amelia

Publication type:

Article

A New Approach for Second-Tier Analysis of Methylmalonic Acid in Dried Blood Spots Using Liquid Chromatography Tandem Mass Spectrometry.

Published in:

Journal of Clinical & Diagnostic Research, 2021, v. 15, n. 2, p. 1, doi. 10.7860/JCDR/2021/46980.14485

By:

VARUGHESE, BIJO;
MADREWAR, DNYANOBA;
POLIPALLI, SUNIL KUMAR;
RAMJI, SIDDARTH;
KAPOOR, SEEMA

Publication type:

Article

Comparison of four automated serum vitamin B12 assays.

Published in:

Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 8, p. 1205, doi. 10.1515/cclm-2014-0843

By:

İspir, Emre;
Serdar, Muhittin A.;
Ozgurtas, Taner;
Gulbahar, Ozlem;
Akın, Kadir Okhan;
Yesildal, Fatih;
Kurt, İsmail

Publication type:

Article

Combined indicator of vitamin B12 status: modification for missing biomarkers and folate status and recommendations for revised cut-points.

Published in:

Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 8, p. 1215, doi. 10.1515/cclm-2014-0818

By:

Fedosov, Sergey N.;
Brito, Alex;
Miller, Joshua W.;
Green, Ralph;
Allen, Lindsay H.

Publication type:

Article

A review of the cut-off points for the diagnosis of vitamin B12 deficiency in the general population.

Published in:

Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 8, p. 1149, doi. 10.1515/cclm-2014-0784

By:

Aparicio-Ugarriza, Raquel;
Palacios, Gonzalo;
Alder, Monika;
González-Gross, Marcela

Publication type:

Article

Proteomics of vitamin B12 processing.

Published in:

Clinical Chemistry & Laboratory Medicine, 2013, v. 51, n. 3, p. 477, doi. 10.1515/cclm-2012-0568

By:

Hannibal, Luciana;
DiBello, Patricia M.;
Jacobsen, Donald W.

Publication type:

Article

Genetic defects in folate and cobalamin pathways affecting the brain.

Published in:

Clinical Chemistry & Laboratory Medicine, 2013, v. 51, n. 1, p. 139, doi. 10.1515/cclm-2012-0673

By:

Kirsch, Susanne H.;
Herrmann, Wolfgang;
Obeid, Rima

Publication type:

Article

Swiss MedLab 2012 Congress of the Swiss Union of Laboratory Medicine (SULM).

Published in:: Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 5, p. A159, doi. 10.1515/cclm-2012-0229
Publication type:: Article

Impact of HIV Infection and Zidovudine Therapy on RBC Parameters and Urine Methylmalonic Acid Levels.

Published in:

Interdisciplinary Perspectives on Infectious Diseases, 2016, p. 1, doi. 10.1155/2016/5210963

By:

Adediran, Adewumi;
Osunkalu, Vincent;
Wakama, Tamunomieibi;
John-Olabode, Sarah;
Akinbami, Akinsegun;
Uche, Ebele;
Akanmu, Sulaimon

Publication type:

Article

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Published in:

Biochemical Genetics, 2015, v. 53, n. 11/12, p. 310, doi. 10.1007/s10528-015-9694-9

By:

Sawangareetrakul, Phannee;
Ketudat Cairns, James;
Vatanavicharn, Nithiwat;
Liammongkolkul, Somporn;
Wasant, Pornswan;
Svasti, Jisnuson;
Champattanachai, Voraratt

Publication type:

Article

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03021-3

By:

Arhip, Loredana;
Brox-Torrecilla, Noemi;
Romero, Inmaculada;
Motilla, Marta;
Serrano-Moreno, Clara;
Miguélez, María;
Cuerda, Cristina

Publication type:

Article

Late-onset cblC defect: clinical, biochemical and molecular analysis.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02890-4

By:

Ding, Si;
Ling, Shiying;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Chen, Ting;
Zhan, Xia;
Xu, Feng;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Methylmalonic acid, vitamin B12, and mortality risk in patients with preexisting coronary heart disease: a prospective cohort study.

Published in:

Nutrition Journal, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12937-023-00900-6

By:

Guo, Junchen;
Liu, XiaoXuan;
Wang, Zeng;
Lu, Rongzhe;
Liu, Yige;
Zhang, Yiying;
Tian, Wei;
Fang, Shaohong;
Wang, Shanjie;
Yu, Bo

Publication type:

Article

Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report.

Published in:

2020

By:

Wen, Ling-Yi;
Guo, Ying-Kun;
Shi, Xiao-Qing

Publication type:

journal article

Radiosynthesis and in vivo evaluation of [I]2-(4-iodophenethyl)-2-methylmalonic acid as a potential radiotracer for detection of apoptosis.

Published in:

Journal of Radioanalytical & Nuclear Chemistry, 2016, v. 308, n. 1, p. 23, doi. 10.1007/s10967-015-4346-4

By:

Jeon, Jongho;
Shim, Ha;
Mushtaq, Sajid;
Kang, Jung;
Nam, You;
Yoon, Seonhye;
Kim, Hye;
Choi, Dae;
Jang, Beom;
Park, Sang

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

Prevalence of Vitamin B12 Deficiency in Antiretroviral Therapy Naïve Adults with Human Immunodeficiency Virus Infection in a Human Immunodeficiency Virus Treatment Center in Lagos, Nigeria.

Published in:

Annals of Tropical Pathology, 2021, v. 12, n. 2, p. 53, doi. 10.4103/atp.atp_6_21

By:

Kalejaiye, Olufunto Olufela;
Duduyemi, Babatunde M.;
Onalu, Christian Okechukwu;
Amoo, Olufemi Samuel;
Odunukwe, Nkiruika Nnoyelum;
Okubadejo, Njideka Ulunma;
Kehinde, Michael Olufemi

Publication type:

Article