Works matching DE "ENZYME deficiency"

Results: 650

Genetics of ovulatory dysfunction and infertility: a scoping review and gene ontology analysis.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1458711

By:

DiPietro, Erin E.;
Sarasua, Sara M.;
Hopkins, Casey S.;
Ganakammal, Satishkumar Ranganathan;
Boccuto, Luigi;
Hurwitz, Joshua

Publication type:

Article

Síndrome de Lesch-Nyhan en gemelos dicigóticos.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 445

By:

Garcia, Rocio V.;
Specola, Norma;
Ivarola, Paula;
Caraballo, Roberto

Publication type:

Article

Síndrome de Lesch-Nyhan en gemelos dicigóticos.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 445

By:

Garcia, Rocio V.;
Specola, Norma;
Ivarola, Paula;
Caraballo, Roberto

Publication type:

Article

Exploring Multivalent Architectures for Binding and Stabilization of N -Acetylgalactosamine 6-Sulfatase.

Published in:

Molecules, 2025, v. 30, n. 10, p. 2222, doi. 10.3390/molecules30102222

By:

Davighi, Maria Giulia;
Clemente, Francesca;
D'Adamio, Giampiero;
Martínez-Bailén, Macarena;
Morano, Alessio;
Goti, Andrea;
Morrone, Amelia;
Matassini, Camilla;
Cardona, Francesca

Publication type:

Article

Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

Published in:

2025

By:

Venezia, Marika;
Vinci, Martina;
Colomba, Paolo;
Zizzo, Carmela;
Duro, Giovanni;
Moschetti, Marta

Publication type:

Case Study

Thrombotic Thrombocytopenic Purpura in Pediatric Patients.

Published in:

Biomedicines, 2025, v. 13, n. 5, p. 1038, doi. 10.3390/biomedicines13051038

By:

Shrestha, Niki;
Okpako, Ebruphiyo;
Maitta, Robert W.

Publication type:

Article

CAH Update: High-Level Examination of Condition Published in Expert Review of Endocrinology & Metabolism, Neurocrine Announces.

Published in:

2025

By:

Halsey, Grace

Publication type:

Case Study

Crinecerfont for Congenital Adrenal Hyperplasia Now Commercially Available, Neurocrine Biosciences Announces.

Published in:

Patient Care (Online), 2024, p. 19

By:

Halsey, Grace

Publication type:

Article

Expert Perspectives 2024: Breakthrough Therapy for Congenital Adrenal Hyperplasia with PI Richard Auchus, MD, PhD.

Published in:

Patient Care (Online), 2024, p. 5

By:

Auchus, Richard J.

Publication type:

Article

Irreversible neurological effects of late diagnosis phenylketonuria: A case presentation.

Published in:

International Journal of Medical Biochemistry, 2023, v. 6, n. 2, p. 133, doi. 10.14744/ijmb.2023.54376

By:

Gupta, Khyati;
Jain, Aviral;
Sawant, Vishal Dnyaneshwar;
Save, Sushma

Publication type:

Article

Gyrus atrophy of the choroid and retina. A case presentation.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2023, n. 2, p. 63, doi. 10.31288/oftalmolzh202326364

By:

Garduño-Vieyra, Leopoldo;
Rua Martinez, Raul;
Rodríguez Mena, Natalia;
Villalobos Alonso, Gladys Amanda

Publication type:

Article

GSTM1 and GSTT1 polymorphisms in healthy volunteers – a worldwide systematic review.

Published in:

Drug Metabolism Reviews, 2022, v. 54, n. 1, p. 37, doi. 10.1080/03602532.2022.2036996

By:

Nakanishi, Giovana;
Bertagnolli, Laísa S.;
Pita-Oliveira, Murilo;
Scudeler, Mariana M.;
Torres-Loureiro, Sabrina;
Almeida-Dantas, Thaís;
Alves, Maria Laura C.;
Cirino, Heithor S.;
Rodrigues-Soares, Fernanda

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

New nutritional challenge in glucose-6-phosphate dehydrogenase-deficient patients: prospective study with genotype-phenotype correlation.

Published in:

Egyptian Journal of Haematology, 2023, v. 48, n. 3, p. 246, doi. 10.4103/ejh.ejh_16_23

By:

Elghamry, Islam;
Elalfy, Mohsen S.;
Adly, Amira;
Duca, Lorena;
Kamal, Tarek;
Eldeeb, Marwa;
Elalfy, Omar

Publication type:

Article

DPYD genotyping and dihydropyrimidine dehydrogenase (DPD) phenotyping in clinical oncology. A clinically focused minireview.

Published in:

Basic & Clinical Pharmacology & Toxicology, 2022, v. 131, n. 5, p. 325, doi. 10.1111/bcpt.13782

By:

Paulsen, Niels Herluf;
Vojdeman, Fie;
Andersen, Stig Ejdrup;
Bergmann, Troels K.;
Ewertz, Marianne;
Plomgaard, Peter;
Hansen, Morten Rix;
Esbech, Peter Skov;
Pfeiffer, Per;
Qvortrup, Camilla;
Damkier, Per

Publication type:

Article

Caracterización demográfica, clínica, paraclínica y molecular de pacientes con enfermedad de Gaucher tipo 1 en el Suroccidente Colombiano.

Published in:

Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2024, v. 1, n. 36, p. 57, doi. 10.47499/revistaaccb.v1i36.308

By:

Arturo-Terranova, Daniela;
Moreno Giraldo, Lina Johanna;
Satizabal Soto, José María

Publication type:

Article

Neurofilament light is a treatment‐responsive biomarker in CLN2 disease.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2437, doi. 10.1002/acn3.50942

By:

Ru, Yuanbin;
Corado, Carley;
Soon, Russell K.;
Melton, Andrew C.;
Harris, Adam;
Yu, Guoying K.;
Pryer, Nancy;
Sinclair, John R.;
Katz, Martin L.;
Ajayi, Temitayo;
Jacoby, David;
Russell, Chris B.;
Chandriani, Sanjay

Publication type:

Article

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 4, p. 518, doi. 10.3390/metabo13040518

By:

Shakerdi, Loai A.;
Gillman, Barbara;
Corcoran, Emma;
McNulty, Jenny;
Treacy, Eileen P.

Publication type:

Article

Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 5, p. 377, doi. 10.3390/metabo12050377

By:

Jones, Dylan E.;
Jennings, Elizabeth A.;
Ryan, Robert O.

Publication type:

Article

Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 3, p. 241, doi. 10.3390/metabo12030241

By:

Mádrová, Lucie;
Součková, Olga;
Brumarová, Radana;
Dobešová, Dana;
Václavík, Jan;
Kouřil, Štěpán;
de Sousa, Julie;
Friedecká, Jaroslava;
Friedecký, David;
Barešová, Veronika;
Zikánová, Marie;
Adam, Tomáš

Publication type:

Article

Transient Production of Human β-Glucocerebrosidase With Mannosidic-Type N -Glycan Structure in Glycoengineered Nicotiana benthamiana Plants.

Published in:

Frontiers in Plant Science, 2021, v. 12, p. 1, doi. 10.3389/fpls.2021.683762

By:

Uthailak, Naphatsamon;
Kajiura, Hiroyuki;
Misaki, Ryo;
Fujiyama, Kazuhito

Publication type:

Article

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01900

By:

Munoz, Marcia A.;
Jurczyluk, Julie;
Simon, Anna;
Hissaria, Pravin;
Arts, Rob J. W.;
Coman, David;
Boros, Christina;
Mehr, Sam;
Rogers, Michael J.

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

Genetic Removal of the CH1 Exon Enables the Production of Heavy Chain-Only IgG in Mice.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02202

By:

Zhang, Tianyi;
Cheng, Xueqian;
Yu, Di;
Lin, Fuyu;
Hou, Ning;
Cheng, Xuan;
Hao, Shanshan;
Wei, Jingjing;
Ma, Li;
Fu, Yanbin;
Ma, Yonghe;
Ren, Liming;
Han, Haitang;
Yu, Shuyang;
Yang, Xiao;
Zhao, Yaofeng

Publication type:

Article

Early Renal Involvement in a Girl with Classic Fabry Disease.

Published in:

Case Reports in Nephrology, 2017, p. 1, doi. 10.1155/2017/9543079

By:

Perretta, Fernando;
Antongiovanni, Norberto;
Jaurretche, Sebastián

Publication type:

Article

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis.

Published in:

2018

By:

Papi, Giampaolo;
Paragliola, Rosa Maria;
Concolino, Paola;
Di Donato, Carlo;
Pontecorvi, Alfredo;
Corsello, Salvatore Maria

Publication type:

Case Study

Prevalence of G6PD Deficiency in Iran.

Published in:

International Journal of Hematology-Oncology & Stem Cell Research, 2013, v. 7, n. 1, p. 45

By:

Shahjahani, Mohammad;
Mortazavi, Yousef;
Heli, Bizhan;
Dehghanifard, Ali

Publication type:

Article

Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1341, doi. 10.1007/s00431-023-05376-4

By:

Yılmaz, Begüm;
Ceylan, Ahmet Cevdet;
Gündüz, Mehmet;
Ünal Uzun, Özlem;
Küçükcongar Yavaş, Aynur;
Bilginer Gürbüz, Berrak;
Öncül, Ümmühan;
Güleç Ceylan, Gülay;
Kasapkara, Çiğdem Seher

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

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 8, p. 1077, doi. 10.1007/s00431-015-2509-5

By:

Karaca, Mehmet;
Özgül, Rıza;
Ünal, Özlem;
Yücel-Yılmaz, Didem;
Kılıç, Mustafa;
Hişmi, Burcu;
Tokatlı, Ayşegül;
Coşkun, Turgay;
Dursun, Ali;
Sivri, Hatice

Publication type:

Article

Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful Novel Tool for the Diagnostic Approach of Dysfunctional 11β-HSD2-Related Hypertension.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.681974

By:

De Santis, Domenica;
Castagna, Annalisa;
Danese, Elisa;
Udali, Silvia;
Martinelli, Nicola;
Morandini, Francesca;
Veneri, Mariangela;
Bertolone, Lorenzo;
Olivieri, Oliviero;
Friso, Simonetta;
Pizzolo, Francesca

Publication type:

Article

Red Cell Glucose 6-Phosphate Dehydrogenase Deficiency in the Northern Region of Turkey: Is G6PD Deficiency Exclusively a Male Disease?

Published in:

Pediatric Hematology & Oncology, 2015, v. 32, n. 2, p. 85, doi. 10.3109/08880018.2014.940074

By:

Albayrak, Canan;
Albayrak, Davut

Publication type:

Article

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.

Published in:

Genes, 2025, v. 16, n. 3, p. 354, doi. 10.3390/genes16030354

By:

de Sousa Azulay, Rossana Santiago;
Facundo, Alexandre Nogueira;
Sousa, Sarah Sousa e;
Nascimento, Gilvan Cortes;
Magalhães, Marcelo;
de Oliveira Neto, Clariano Pires;
de Abreu, Joana D'arc Matos França;
Lago, Débora Cristina Ferreira;
da Silva Pereira Damianse, Sabrina;
de Carvalho, Viviane Chaves;
Nascimento, Caio Andrade;
Rodrigues, Vandilson Pinheiro;
Coeli-Lacchini, Fernanda Borchers;
de Castro, Margaret;
dos Santos Faria, Manuel

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

A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.

Published in:

Genes, 2024, v. 15, n. 12, p. 1576, doi. 10.3390/genes15121576

By:

Bartnik, Magdalena;
Pawlik, Weronika;
Burzyńska, Beata;
Wasilewski, Konrad;
Kamieńska, Elżbieta;
Urasiński, Tomasz

Publication type:

Article

The Missense Variant in the Signal Peptide of α-GLA Gene, c.13 A/G, Promotes Endoplasmic Reticular Stress and the Related Pathway's Activation.

Published in:

Genes, 2024, v. 15, n. 7, p. 947, doi. 10.3390/genes15070947

By:

Bossio, Sabrina;
Perrotta, Ida Daniela;
Lofaro, Danilo;
La Russa, Daniele;
Rago, Vittoria;
Bonofiglio, Renzo;
Greco, Rosita;
Andreucci, Michele;
Aversa, Antonio;
La Russa, Antonella;
Perri, Anna

Publication type:

Article

Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia.

Published in:

Genes, 2024, v. 15, n. 6, p. 753, doi. 10.3390/genes15060753

By:

Karachanak-Yankova, Sena;
Serbezov, Dimitar;
Antov, Georgi;
Stancheva, Mikaela;
Mihaylova, Marta;
Hadjidekova, Savina;
Toncheva, Draga;
Pashov, Anastas;
Belejanska, Diyana;
Zhelev, Yavor;
Petrova, Mariya;
Mehrabian, Shima;
Traykov, Latchezar

Publication type:

Article

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Published in:

2022

By:

Ghafoor, Saima;
Silveira, Karina da Costa;
Qamar, Raheel;
Azam, Maleeha;
Kannu, Peter

Publication type:

Case Study

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

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.

Published in:

Genes, 2020, v. 11, n. 11, p. 1325, doi. 10.3390/genes11111325

By:

Borna, Nurun Nahar;
Kishita, Yoshihito;
Sakai, Norio;
Hamada, Yusuke;
Kamagata, Koji;
Kohda, Masakazu;
Ohtake, Akira;
Murayama, Kei;
Okazaki, Yasushi

Publication type:

Article

Sjogren-Larsson Syndrome: Mechanisms and Management.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 13, doi. 10.2147/TACG.S193969

By:

Bindu, Parayil Sankaran

Publication type:

Article

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 35, doi. 10.2147/TACG.S146022

By:

Oliveira, João Paulo;
Ferreira, Susana

Publication type:

Article

Animal models of GM2 gangliosidosis: utility and limitations.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 111, doi. 10.2147/TACG.S85354

By:

Lawson, Cheryl A.;
Martin, Douglas R.

Publication type:

Article

Construction of serralysin-like metalloprotease-deficient mutants of Serratia liquefaciens and their virulence in the silkworm, Bombyx mori.

Published in:

Journal of Insect Biotechnology & Sericology, 2012, v. 81, n. 2/3, p. 55

By:

Kaibara, Fusako;
liyama, Kazuhiro;
Chieda, Yuuka;
Jae Man Lee;
Kusakabe, Takahiro;
Yasunaga-Aoki, Chisa;
Shimizu, Susumu

Publication type:

Article

Podocituria en pacientes pediátricos con enfermedad de Fabry.

Published in:

Nefrologia, 2019, v. 39, n. 2, p. 177, doi. 10.1016/j.nefro.2018.05.009

By:

Liern, Miguel;
Collazo, Anabella;
Valencia, Maylin;
Fainboin, Alejandro;
Isse, Lorena;
Vallejo, Graciela;
Ochoa, Federico;
Costales-Collaguazo, Cristian;
Zotta, Elsa

Publication type:

Article

Emotional and behavioural functioning in children with tyrosinaemia type 1.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2024, v. 30, n. 1, p. 8, doi. 10.5114/pedm.2024.138666

By:

Pohorecka, Monika;
Biernacki, Marcin;
Jakubowska-Winecka, Anna;
Leszczynska-Iwanicka, Kinga;
Rokicki, Dariusz;
Pokora, Paulina;
Perkowska, Barbara;
Pajdowska, Magdalena;
Biernacka, Marta

Publication type:

Article

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2020, v. 26, n. 1, p. 58, doi. 10.5114/pedm.2020.93248

By:

Muthuvel, Balasubramaniyan;
Gautam, Akanksha;
Pal, Rimesh;
Panigrahi, Inusha;
Dayal, Devi

Publication type:

Article

A RARE CASE OF HUNTER SYNDROME -CASE REPORT.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 38, doi. 10.37897/rjp.2015.1.8

By:

Melit, Lorena Elena;
Marginean, Oana;
Duicu, Carmen;
Campean, Cristina;
Marginean, Maria Oana

Publication type:

Article

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.

Published in:

2019

By:

Trefz, K. F.;
Muntau, A. C.;
Kohlscheen, K. M.;
Altevers, J.;
Jacob, C.;
Braun, S.;
Greiner, W.;
Jha, A.;
Jain, M.;
Alvarez, I.;
Lane, P.;
Schröder, C.;
Rutsch, F.

Publication type:

journal article

From the tyrosine hydroxylase hypothesis of Parkinson's disease to modern strategies: a short historical overview.

Published in:

Journal of Neural Transmission, 2022, v. 129, n. 5/6, p. 487, doi. 10.1007/s00702-022-02488-3

By:

Rausch, Wolf-Dieter;
Wang, Feixue;
Radad, Khaled

Publication type:

Article