Works matching Enzyme deficiency

Results: 3495

Cochlear Implantation in Biotinidase Enzyme Deficiency.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2022, v. 74, n. 1, p. 316, doi. 10.1007/s12070-020-02105-3

By:

Castellino, Ashish;
Kurkure, Rahul;
Rayamajhi, Pabina;
Kameswaran, Mohan

Publication type:

Article

Side‐chain cleavage enzyme deficiency: Systematic review and case series.

Published in:

Clinical Endocrinology, 2023, v. 98, n. 3, p. 351, doi. 10.1111/cen.14848

By:

Phadte, Aditya;
Arya, Sneha;
Sarathi, Vijaya;
Lila, Anurag;
Maheshwari, Madhur;
Memon, Saba Samad;
Rane, Ankita;
Patil, Virendra;
Rai, Khushnandan;
Raghav, Darpan;
Kunwar, Ambarish;
Bandgar, Tushar

Publication type:

Article

The Prevalence of Single Nucleotide Polymorphisms of the AOC1 Gene Associated with Diamine Oxidase (DAO) Enzyme Deficiency in Healthy Newborns: A Prospective Population-Based Cohort Study.

Published in:

Genes, 2025, v. 16, n. 2, p. 141, doi. 10.3390/genes16020141

By:

Fortes Marin, Emma;
Carrera Marcolin, Lydia;
Martí Melero, Laia;
Tintoré Gazulla, María;
Beltran Porres, Mireia

Publication type:

Article

Antioxidant enzyme deficiencies and vascular disease.

Published in:

Expert Review of Endocrinology & Metabolism, 2010, v. 5, n. 1, p. 15, doi. 10.1586/EEM.09.41

By:

Loscalzo, Joseph

Publication type:

Article

Prevalence of Diamine Oxidase Enzyme (DAO) Deficiency in Subjects with Insomnia-Related Symptoms.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4583, doi. 10.3390/jcm13164583

By:

López García, Raquel;
Ferrer-Garcia, Júlia;
Sansalvador, Anna;
Quera-Salva, Maria-Antonia

Publication type:

Article

Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Published in:

Scientifica, 2016, p. 1, doi. 10.1155/2016/9828672

By:

Chaturvedi, Swati;
Singh, Ashok K.;
Keshari, Amit K.;
Maity, Siddhartha;
Sarkar, Srimanta;
Saha, Sudipta

Publication type:

Article

Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway.

Published in:

Biomedicines, 2022, v. 10, n. 12, p. 3198, doi. 10.3390/biomedicines10123198

By:

Savino, Maria;
Guida, Claudio Carmine;
Nardella, Maria;
Murgo, Emanuele;
Augello, Bartolomeo;
Merla, Giuseppe;
De Cosmo, Salvatore;
Savino, Antonio Fernando;
Tarquini, Roberto;
Cei, Francesco;
Aucella, Filippo;
Mazzoccoli, Gianluigi

Publication type:

Article

Effects of excessive nitrogen fertilizer and soil moisture deficiency on antioxidant enzyme system and osmotic adjustment in tomato seedlings.

Published in:

International Journal of Agricultural & Biological Engineering, 2022, v. 15, n. 2, p. 127, doi. 10.25165/j.ijabe.20221502.5555

By:

Yujie Zhang;
Shuangen Yu;
Zijia Li;
Tingting Chang;
Qicong Xu;
Huilian Xu;
Jie Zhang

Publication type:

Article

Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.

Published in:

Molecular Biology Reports, 2022, v. 49, n. 3, p. 2141, doi. 10.1007/s11033-021-07031-3

By:

Deorukhkar, Anuradha;
Kulkarni, Anuja;
Kedar, Prabhakar

Publication type:

Article

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8873219

By:

Cerbino, G. N.;
Assali, L. Abou;
Varela, L. S.;
Tomassi, L.;
Batlle, A.;
Parera, V. E.;
Rossetti, M. V.

Publication type:

Article

Management of Athletes With G6PD Deficiency: Does Missing an Enzyme Mean Missing More Games?

Published in:

2020

By:

Stone, Shane N.;
Reisig, Karl V.;
Saffel, Heather L.;
Miles, Christopher M.

Publication type:

journal article

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Published in:

Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2

By:

Laforêt, Pascal;
Inoue, Michio;
Goillot, Evelyne;
Lefeuvre, Claire;
Cagin, Umut;
Streichenberger, Nathalie;
Leonard-Louis, Sarah;
Brochier, Guy;
Madelaine, Angeline;
Labasse, Clemence;
Hedberg-Oldfors, Carola;
Krag, Thomas;
Jauze, Louisa;
Fabregue, Julien;
Labrune, Philippe;
Milisenda, Jose;
Nadaj-Pakleza, Aleksandra;
Sacconi, Sabrina;
Mingozzi, Federico;
Ronzitti, Giuseppe

Publication type:

Article

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Published in:

Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00031

By:

Yadak, Rana;
Smitt, Peter Sillevis;
van Gisbergen, Marike W.;
van Til, Niek P.;
de Coo, Irenaeus F. M.

Publication type:

Article

A case of methylenetetrahydrofolate reductase deficiency enzyme deficiency carrying a novel mutation.

Published in:

Neurology & Clinical Neuroscience, 2019, v. 7, n. 5, p. 276, doi. 10.1111/ncn3.12295

By:

Khosa, Shaweta;
Girard, David;
Khosa, Gurveer S.;
Srivastava, Soma S.;
Mishra, Shri K.

Publication type:

Article

Glycobiology: Enzyme deficiencies deciphered.

Published in:

Nature Chemical Biology, 2012, v. 8, n. 2, p. 137, doi. 10.1038/nchembio.778

By:

Kjellén, Lena

Publication type:

Article

Polymorphisms in rs915941 and rs915942: Are they associated with increased risk of G6PD enzyme deficiency in the Sri Lankan population?

Published in:

Journal of the National Science Foundation of Sri Lanka, 2021, v. 49, n. 2, p. 157, doi. 10.4038/jnsfsr.v49i2.9959

By:

Dewasurendra, R.;
Sepulveda, N.;
Chandrasekharan, N.;
Karunaweera, N.;
Gunawardena, S.

Publication type:

Article

Recapture Lysosomal Enzyme Deficiency via Targeted Gene Disruption in the Human Near-Haploid Cell Line HAP1.

Published in:

Genes, 2021, v. 12, n. 7, p. 1076, doi. 10.3390/genes12071076

By:

Brown, Annie;
Zhang, Jiayi;
Lawler, Brendan;
Lu, Biao

Publication type:

Article

Assessment of Mothers' knowledge upon their Children with Enzyme Deficiency (G6PD) in Pediatric Teaching Hospital at AL-Hilla City.

Published in:

Indian Journal of Public Health Research & Development, 2018, v. 9, n. 10, p. 898, doi. 10.5958/0976-5506.2018.01254.8

By:

Hasan, Abdul Mahdi A.

Publication type:

Article

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

Published in:

Journal of Neurochemistry, 2013, v. 127, n. 1, p. 101, doi. 10.1111/jnc.12277

By:

Kakhlon, Or;
Glickstein, Hava;
Feinstein, Naomi;
Liu, Yan;
Baba, Otto;
Terashima, Tatsuo;
Akman, Hasan Orhan;
DiMauro, Salvatore;
Lossos, Alexander

Publication type:

Article

Gluconeogenic enzyme PCK1 deficiency promotes CHK2 O-GlcNAcylation and hepatocellular carcinoma growth upon glucose deprivation.

Published in:

2021

By:

Jin Xiang;
Chang Chen;
Rui Liu;
Dongmei Gou;
Lei Chang;
Haijun Deng;
Qingzhu Gao;
Wanjun Zhang;
Lin Tuo;
Xuanming Pan;
Li Liang;
Jie Xia;
Luyi Huang;
Ke Yao;
Bohong Wang;
Zeping Hu;
Ailong Huang;
Kai Wang;
Ni Tang;
Xiang, Jin

Publication type:

journal article

Effect of D-amino acid metabolic enzyme deficiency on cancer development—diffuse large B-cell lymphoma onset and gene expression analyses in DASPO-knockout mice.

Published in:

Amino Acids, 2024, v. 57, n. 1, p. 1, doi. 10.1007/s00726-024-03426-1

By:

Nakade, Yusuke;
Iwata, Yasunori;
Harada, Kenichi;
Sato, Yasuharu;
Mita, Masashi;
Hamase, Kenji;
Konno, Ryuichi;
Hayashi, Mayo;
Kobayashi, Taku;
Yamamura, Yuta;
Toyama, Tadashi;
Tajima, Atsushi;
Wada, Takashi

Publication type:

Article

Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency—The Specificity of Treatment and Care: A Case Report.

Published in:

Medicina (1010660X), 2024, v. 60, n. 6, p. 1006, doi. 10.3390/medicina60061006

By:

Wojnar-Gruszka, Katarzyna;
Nowak-Kózka, Ilona;
Cichoń, Jakub;
Ogryzek, Aleksandra;
Płaszewska-Żywko, Lucyna

Publication type:

Article

Comparison of Three Screening Test Kits for G6PD Enzyme Deficiency: Implications for Its Use in the Radical Cure of Vivax Malaria in Remote and Resource-Poor Areas in the Philippines.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148172

By:

Espino, Fe Esperanza;
Bibit, Jo-Anne;
Sornillo, Johanna Beulah;
Tan, Alvin;
von Seidlein, Lorenz;
Ley, Benedikt

Publication type:

Article

EFFECT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY ON SOME ENZYMES AND VITAMINS IN FAVISM PATIENTS IN BASRAH GOVERNORATE -IRAQ.

Published in:

Journal of Basrah Researches (Sciences), 2021, v. 47, n. 1, p. 190

By:

SAUD, KHANSAA SAQR;
MATTER Al-MALIKI, ABBAS DAWWAS

Publication type:

Article

Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.

Published in:

Cells (2073-4409), 2024, v. 13, n. 10, p. 877, doi. 10.3390/cells13100877

By:

Pan, Xuefang;
Caillon, Antoine;
Fan, Shuxian;
Khan, Shaukat;
Tomatsu, Shunji;
Pshezhetsky, Alexey V.

Publication type:

Article

Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.

Published in:

Hormone Research in Paediatrics, 2023, v. 96, n. 4, p. 439, doi. 10.1159/000529126

By:

Gagnon, Charles;
Hurst, Anna C.E.;
Ashraf, Ambika P.

Publication type:

Article

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Published in:

2013

By:

Ferdinandusse, Sacha;
Waterham, Hans R.;
Heales, Simon J. R.;
Brown, Garry K.;
Hargreaves, Iain P.;
Taanman, Jan-Willem;
Gunny, Roxana;
Abulhoul, Lara;
Wanders, Ronald J. A.;
Clayton, Peter T.;
Leonard, James V.;
Rahman, Shamima

Publication type:

journal article

مقایسه روشهاي فلورسانتنقطهاي، دکولوراسیون و اندازهگیري کمی آنزیمی در تشخیصنقصدر عملکرد آنزیمی گلوکز- 6- فسفات دهیدروژناز نوزادان

Published in:

Journal of Gorgan University of Medical Sciences, 2015, v. 17, n. 3, p. 108

By:

پیام روشن;
مهرنوشکوثریان;
محمدرضا مهدوي;
حسین جلالی

Publication type:

Article

Disaccharidase Enzyme Deficiency in Adult Patients With Gas and Bloating.

Published in:

Clinical & Translational Gastroenterology, 2025, v. 16, n. 3, p. e00809, doi. 10.14309/ctg.0000000000000809

By:

Kemple, Brendan;
Rao, Satish S.C.

Publication type:

Article

Why does the Iranian National Program of Screening Newborns for G6PD Enzyme Deficiency Miss a Large Number of Affected Infants?

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 1, p. 95, doi. 10.3109/08880018.2013.871613

By:

Kosaryan, Mehrnoush;
Mahdavi, Mohammad Reza;
Jalali, Hossein;
Roshan, Payam

Publication type:

Article

Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders.

Published in:

Developmental Neuroscience, 1983, v. 6, n. 1, p. 58, doi. 10.1159/000112332

By:

Conzelmann, E.;
Sandhoff, K.

Publication type:

Article

Rare forms of congenital adrenal hyperplasia.

Published in:

Clinical Endocrinology, 2024, v. 101, n. 4, p. 371, doi. 10.1111/cen.15009

By:

Gurpinar Tosun, Busra;
Guran, Tulay

Publication type:

Article

Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

Published in:

Ultrastructural Pathology, 2015, v. 39, n. 4, p. 293, doi. 10.3109/01913123.2015.1014612

By:

Kakkar, Aanchal;
Sharma, Mehar Chand;
Nambirajan, Aruna;
Sarkar, Chitra;
Suri, Vaishali;
Gulati, Sheffali

Publication type:

Article

In silico study of peculiarities of metabolism of erythrocytes with glucosephosphate isomerase deficiency.

Published in:

Regulatory Mechanisms in Biosystems, 2019, v. 10, n. 3, p. 306, doi. 10.15421/021947

By:

Dotsenko, O. I.

Publication type:

Article

Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.

Published in:

2019

By:

Guffon, Nathalie;
Journeau, Pierre;
Brassier, Anaïs;
Leger, Juliane;
Chevallier, Bertrand

Publication type:

journal article

Deficiencia de glucosa-6-fosfato-deshidrogenasa (G6PD) en individuos de la ciudad de Cartagena.

Published in:

Ciencia e Innovación en Salud, 2021, p. 323, doi. 10.17081/innosa.140

By:

Quinto Casalins, Angélica;
Rodríguez-Cavallo, Erika;
Moneriz-Pretel, Carlos;
Méndez Cuadro, Darío

Publication type:

Article

Secondary biochemical and morphological consequences in lysosomal storage diseases.

Published in:

Biochemistry (00062979), 2014, v. 79, n. 7, p. 619, doi. 10.1134/S0006297914070049

By:

Alroy, J.;
Garganta, C.;
Wiederschain, G.

Publication type:

Article

Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.

Published in:

Laboratory Medicine, 2025, v. 56, n. 1, p. 93, doi. 10.1093/labmed/lmae058

By:

Mohideen, Shifaniya Banu;
Fernando, Pitipanage Mihika Samindi;
Beetz, Christian;
Schroder, Sabine;
Pereira, Catarina;
Gunatilleke, Senaka;
Rathnayake, Pyara;
Jasinge, Eresha

Publication type:

Article

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00101

By:

Beck, David B.;
Aksentijevich, Ivona

Publication type:

Article

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 957, doi. 10.1515/jpem-2014-0354

By:

Sagsak, Elif;
Aycan, Zehra;
Savas-Erdeve, Senay;
Keskin, Meliksah;
Cetinkaya, Semra;
Karaer, Kadri

Publication type:

Article

Medical Muddle.

Published in:

Journal of Lesbian Studies, 2014, v. 18, n. 1, p. 57, doi. 10.1080/10894160.2013.836436

By:

Gartrell, Nanette

Publication type:

Article

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.

Published in:

Turkish Journal of Medical Sciences, 2021, v. 51, n. 3, p. 1220, doi. 10.3906/sag-2001-72

By:

ŞEKER YILMAZ, Berna;
KÖR, Deniz;
BULUT, Fatma Derya;
KILAVUZ, Sebile;
CEYLANER, Serdar;
ÖNENLİ MUNGAN, Halise Neslihan

Publication type:

Article

Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report.

Published in:

2023

By:

Takahashi, Tamayo;
Oue, Kana;
Imado, Eiji;
Doi, Mitsuru;
Shimizu, Yoshitaka;
Yoshida, Mitsuhiro

Publication type:

Case Study

Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 9, p. 1096, doi. 10.3390/biom14091096

By:

Mishra, Kumudesh;
Kakhlon, Or

Publication type:

Article

An Overview of Molecular Mechanisms in Fabry Disease.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101460

By:

Amodio, Federica;
Caiazza, Martina;
Monda, Emanuele;
Rubino, Marta;
Capodicasa, Laura;
Chiosi, Flavia;
Simonelli, Vincenzo;
Dongiglio, Francesca;
Fimiani, Fabio;
Pepe, Nicola;
Chimenti, Cristina;
Calabrò, Paolo;
Limongelli, Giuseppe

Publication type:

Article

Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease.

Published in:

Journal of Functional Biomaterials, 2024, v. 15, n. 6, p. 153, doi. 10.3390/jfb15060153

By:

Calzoni, Eleonora;
Cerrotti, Giada;
Sagini, Krizia;
Delo, Federica;
Buratta, Sandra;
Pellegrino, Roberto Maria;
Alabed, Husam B. R.;
Fratini, Federica;
Emiliani, Carla;
Urbanelli, Lorena

Publication type:

Article

Prevalence of Disaccharidase Deficiency in Adults With Unexplained Gastrointestinal Symptoms.

Published in:

Journal of Neurogastroenterology & Motility, 2020, v. 26, n. 3, p. 384, doi. 10.5056/jnm19167

By:

Viswanathan, Lavanya;
Rao, Satish S. C.;
Kennedy, Kevin;
Sharma, Amol;
Yun Yan;
Jimenez, Enoe

Publication type:

Article

Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.

Published in:

Hormone Research in Paediatrics, 2023, v. 96, n. 3, p. 249, doi. 10.1159/000526401

By:

Navarro-Zambrana, Andrea N.;
Sheets, Lincoln R.

Publication type:

Article

Study of RBCs Pyruvate Kinase Deficiency in Neonatal Pathological Indirect Hyperbilirubinemia.

Published in:

Egyptian Journal of Hospital Medicine, 2022, v. 89, p. 5106, doi. 10.21608/ejhm.2022.261797

By:

Syam, Ahmed Galal;
Ahmed, Adel Sherif;
Hadhood, Alaa El Din A.;
Gerges, Eriny Saad

Publication type:

Article

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3625, doi. 10.3390/ijms22073625

By:

Napolitano, Filomena;
Bruno, Giorgia;
Terracciano, Chiara;
Franzese, Giuseppina;
Palomba, Nicole Piera;
Scotto di Carlo, Federica;
Signoriello, Elisabetta;
De Blasiis, Paolo;
Navarro, Stefano;
Gialluisi, Alessandro;
Melone, Mariarosa Anna Beatrice;
Sampaolo, Simone;
Esposito, Teresa;
Ługowska, Agnieszka;
Bednarska-Makaruk, Małgorzata;
Pierzynowska, Karolina

Publication type:

Article