Works matching DE "METABOLIC disorder diagnosis"

Results: 424

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01975-z

By:

Gragnaniello, Vincenza;
Puma, Andrea;
Gueraldi, Daniela;
D'Errico, Ignazio;
Cazzorla, Chiara;
Loro, Christian;
Porcù, Elena;
Salviati, Leonardo;
Burlina, Alberto B.

Publication type:

Article

Evaluation of tear and serum trace elements (copper, selenium, and cobalt) in sheep.

Published in:

Turkish Journal of Veterinary & Animal Sciences, 2016, v. 40, n. 1, p. 34, doi. 10.3906/vet-1501-98

By:

TARHAN, Duygu;
ÜLGEN, Sinem;
ALKAN, Fatma ATEŞ;
ERDİKMEN, Dilek OLGUN;
PARKAN YARAMIŞ, Çağla;
OR, Mehmet Erman;
BARUTÇU, Ümit Bora

Publication type:

Article

Validation of a non-laboratorial questionnaire to identify Metabolic Syndrome among a population in central Mexico.

Published in:

Pan American Journal of Public Health / Revista Panamericana de Salud Pública, 2019, v. 43, p. 1, doi. 10.26633/RPSP.2019.9

By:

Porchia, Leonardo M.;
Lara-Solis, Beatriz;
Torres-Rasgado, Enrique;
Gonzalez-Mejia, M. Elba;
Ruiz-Vivanco, Guadalupe;
Pérez-Fuentes, Ricardo

Publication type:

Article

Reemergence of Neurological Deficit with Hyponatremia—When Obvious Is Not True.

Published in:

Journal of Neuroanaesthesiology & Critical Care, 2023, v. 10, n. 2, p. 142, doi. 10.1055/s-0042-1758459

By:

Goyal, Amit;
Pallavi, Kumari;
Awasthy, Anand K.

Publication type:

Article

Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant.

Published in:

Pediatric Diabetes, 2012, v. 13, n. 6, p. e22, doi. 10.1111/j.1399-5448.2011.00784.x

By:

Guven, A;
Cebeci, N;
Dursun, A;
Aktekin, EH;
Baumgartner, MR;
Fowler, B

Publication type:

Article

The progression from obesity to type 2 diabetes in Alström syndrome.

Published in:

Pediatric Diabetes, 2012, v. 13, n. 1, p. 59, doi. 10.1111/j.1399-5448.2011.00789.x

By:

Bettini, Vera;
Maffei, Pietro;
Pagano, Claudio;
Romano, Sara;
Milan, Gabriella;
Favaretto, Francesca;
Marshall, Jan D.;
Paisey, Richard;
Scolari, Francesco;
Greggio, Nella A.;
Tosetto, Ilaria;
Naggert, Jürgen K.;
Sicolo, Nicola;
Vettor, Roberto

Publication type:

Article

General medicine and surgery for dental practitioners. Part 2 – metabolic disorders.

Published in:

British Dental Journal, 2010, v. 208, n. 9, p. 389, doi. 10.1038/sj.bdj.2010.397

By:

Greenwood, M.;
Meechan, J. G.

Publication type:

Article

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.

Published in:

2019

By:

Janeiro, Patrícia;
Jotta, Rita;
Ramos, Ruben;
Florindo, Cristina;
Ventura, Fátima V.;
Vilarinho, Laura;
Tavares de Almeida, Isabel;
Gaspar, Ana

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

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 6, p. 827, doi. 10.1007/s00431-014-2320-8

By:

Garg, Nisha;
Kasapcopur, Ozgur;
Foster, Joseph;
Barut, Kenan;
Tekin, Ayşe;
Kızılkılıç, Osman;
Tekin, Mustafa

Publication type:

Article

Molecular mechanism of obesity‐induced ‘metabolic’ tissue remodeling.

Published in:

Journal of Diabetes Investigation, 2018, v. 9, n. 2, p. 256, doi. 10.1111/jdi.12769

By:

Tanaka, Miyako;
Itoh, Michiko;
Ogawa, Yoshihiro;
Suganami, Takayoshi

Publication type:

Article

Predicting metabolic syndrome using decision tree and support vector machine methods.

Published in:

ARYA Atherosclerosis, 2016, v. 12, n. 3, p. 146

By:

Karimi-Alavijeh, Farzaneh;
Jalili, Saeed;
Sadeghi, Masoumeh

Publication type:

Article

Revolutionizing MASLD: How Artificial Intelligence Is Shaping the Future of Liver Care.

Published in:

Cancers, 2025, v. 17, n. 5, p. 722, doi. 10.3390/cancers17050722

By:

Pugliese, Nicola;
Bertazzoni, Arianna;
Hassan, Cesare;
Schattenberg, Jörn M.;
Aghemo, Alessio

Publication type:

Article

Concordance between Three Homologous Recombination Deficiency (HRD) Assays in Patients with High-Grade Epithelial Ovarian Cancer.

Published in:

Cancers, 2023, v. 15, n. 23, p. 5525, doi. 10.3390/cancers15235525

By:

Fountzilas, Elena;
Papadopoulou, Kyriaki;
Chatzikonstantinou, Thomas;
Karakatsoulis, Georgios;
Constantoulakis, Pantelis;
Tsantikidi, Aikaterini;
Tsaousis, Georgios;
Karageorgopoulou, Sofia;
Koumarianou, Anna;
Mauri, Davide;
Ntavatzikos, Anastasios;
Saridaki, Zacharenia;
Petrakis, Georgios;
Fostira, Florentia;
Fountzilas, George;
Liontos, Michalis

Publication type:

Article

Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations.

Published in:

Cancers, 2023, v. 15, n. 2, p. 353, doi. 10.3390/cancers15020353

By:

Sfakianaki, Maria;
Tzardi, Maria;
Tsantaki, Konstantina;
Koutoulaki, Chara;
Messaritakis, Ippokratis;
Datseri, Galateia;
Moustou, Eleni;
Mavroudis, Dimitrios;
Souglakos, John

Publication type:

Article

Late Endocrine and Metabolic Sequelae and Long-Term Monitoring of Classical Hodgkin Lymphoma and Diffuse Large B-Cell Lymphoma Survivors: A Systematic Review by the Fondazione Italiana Linfomi.

Published in:

Cancers, 2022, v. 14, n. 6, p. 1439, doi. 10.3390/cancers14061439

By:

Di Molfetta, Sergio;
Daniele, Antonella;
Gerardi, Chiara;
Allocati, Eleonora;
Minoia, Carla;
Loseto, Giacomo;
Giorgino, Francesco;
Guarini, Attilio;
De Sanctis, Vitaliana

Publication type:

Article

Deep Learning Predicts Underlying Features on Pathology Images with Therapeutic Relevance for Breast and Gastric Cancer.

Published in:

Cancers, 2020, v. 12, n. 12, p. 3687, doi. 10.3390/cancers12123687

By:

Valieris, Renan;
Amaro, Lucas;
Osório, Cynthia Aparecida Bueno de Toledo;
Bueno, Adriana Passos;
Rosales Mitrowsky, Rafael Andres;
Carraro, Dirce Maria;
Nunes, Diana Noronha;
Dias-Neto, Emmanuel;
Silva, Israel Tojal da

Publication type:

Article

MOLECULAR CHARACTERISTICS, PHENOTYPIC DIVERSITY AND GENOTYPE-ESTIMATED THERAPEUTIC RESPONSIVENESS OF SERBIAN PATIENTS WITH PHENYLKETONURIA.

Published in:

Journal of Medical Biochemistry, 2014, v. 33, n. 1, p. 97, doi. 10.2478/jomb-2013-0031

By:

Stojiljković-Petrović, Maja;
Klaassen, Kristel;
Pavlović, Sonja

Publication type:

Article

The Coexistence of Generalized and Lateralized Periodic Discharges: Report of Two Adult Cases with SSPE and MELAS Syndrome.

Published in:

2011

By:

Taşkıran, Aslıhan;
Saygı, Serap

Publication type:

Case Study

Ellis van Creveld syndrome with unusual association of essential infantile esotropia.

Published in:

2010

By:

Das, D.;
Das, G.;
Mahapatra, T. K. S.;
Biswas, J.

Publication type:

Case Study

Erythropoietic protoporphyria: A rare cause of painful hands and feet.

Published in:

2019

By:

Juengling, Anne‐Marie;
Boulter, Emily L;
Kava, Maina P;
Juengling, Anne-Marie

Publication type:

Case Study

Citrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemia.

Published in:

2017

By:

Stapleton, Ciara;
Boulter, Emily;
Balasubramaniam, Shanti

Publication type:

Case Study

Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?

Published in:

2017

By:

Al Aqeel, Aida I

Publication type:

Letter

A case of Cotard syndrome associated with central pontine myelinolysis as a result of normally corrected hyponatremia.

Published in:

2022

By:

El-Masri, Shaddy;
Dwyer, Christopher;
Price, Sarah;
Velakoulis, Dennis

Publication type:

Letter

Depression preceding Marchiafava-Bignami disease.

Published in:

2021

By:

Ng Bee Zhen;
Gaillard, Frank;
Walterfang, Mark;
Zain, Norzaini Rose Mohd;
Chee Kok Yoon

Publication type:

Case Study

Histopathological examination of characteristic brain MRI findings in acute hyperammonemic encephalopathy: A case report and review of the literature.

Published in:

Neuroradiology Journal, 2024, v. 37, n. 5, p. 630, doi. 10.1177/19714009231212370

By:

Denk, CH;
Kunzmann, J;
Maieron, A;
Wöhrer, A;
Quinot, V;
Oberndorfer, S

Publication type:

Article

Lentiform Fork Sign: a Magnetic Resonance Finding in a Case of Acute Metabolic Acidosis.

Published in:

Neuroradiology Journal, 2014, v. 27, n. 3, p. 288, doi. 10.15274/NRJ-2014-10041

By:

GRASSO, DANIELA;
BORREGGINE, CARMELA;
PERFETTO, FRANCESCO;
BERTOZZI, VINCENZO;
TRIVISANO, MARINA;
SPECCHIO, LUIGI MARIA;
GRILLI, GIANPAOLO;
MACARINI, LUCA

Publication type:

Article

Late-onset Urea Cycle Deficiency is an Under-recognised Cause of Metabolic Childhood Encephalopathy: a Case Report.

Published in:

Hong Kong Journal of Radiology, 2021, v. 24, n. 3, p. 213, doi. 10.12809/hkjr2117082

By:

Tsoi, C.;
Law, E. K. C.;
Hui, J.;
Chu, W. C. W.

Publication type:

Article

Magnetic Resonance Imaging with Spectroscopy Findings in Neonatal Nonketotic Hyperglycinaemia: A Case Report.

Published in:

Hong Kong Journal of Radiology, 2020, v. 23, n. 1, p. 44, doi. 10.12809/hkjr2017104

By:

Cheung, M.;
Ng, G.;
Lam, W.

Publication type:

Article

Challenges in Diagnosing a Metabolic Disorder: Error of Pyruvate Metabolism or Drug Induced?

Published in:

Journal of Child Neurology, 2014, v. 29, n. 6, p. 833, doi. 10.1177/0883073813477201

By:

Mampilly, George Tomy;
Mampilly, Tomy Kochuvareed;
Christopher, Rita;
Chandramohan, Neeradha;
Janaki, Vijayalakshmy

Publication type:

Article

Epilepsy in Children—When Should We Think Neurometabolic Disease?

Published in:

Journal of Child Neurology, 2012, v. 27, n. 5, p. 663, doi. 10.1177/0883073811435829

By:

Dhamija, Radhika;
Patterson, Marc C.;
Wirrell, Elaine C.

Publication type:

Article

From Apneic Spells to the Development of Hypertensive Hydrocephalus: A Case Report of Homocystinuria With Early Onset.

Published in:

2010

By:

Cerbo, Rosa Maria;
Cabano, Rita;
Lombardi, Giuseppina;
Bollani, Lina;
Colombo, Roberto;
Stronati, Mauro

Publication type:

Case Study

Clinical Practice Guidelines for the Prevention, Diagnosis, Evaluation and Treatment of Mineral and Bone Disorders in Chronic Kidney Disease (CKD-MBD) in Adults.

Published in:

Nefrologia, 2013, v. 33, n. 1, p. 1, doi. 10.3265/Nefrología.pre2013.Feb.11945

By:

Bellorin-Font, Ezequiel;
Ambrosoni, Pablo;
Carlini, Raúl G.;
Carvalho, Aluizio B.;
Correa-Rotter, Ricardo;
Cueto-Manzano, Alfonso;
Jara, Aquiles;
Jorgetti, Vanda;
Negri, Armando;
Olaizola, Inés;
Salusky, Isidro;
Slatopolsky, Eduardo;
Weisinger, José R.

Publication type:

Article

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Published in:

2015

By:

Cassis, Linda;
Cortès-Saladelafont, Elisenda;
Molero-Luis, Marta;
Yubero, Delia;
González, Maria Julieta;
Herrero, Aida Ormazabal;
Fons, Carme;
Jou, Cristina;
Sierra, Cristina;
Ponce, Esperanza Castejon;
Ramos, Federico;
Armstrong, Judith;
Mar O'Callaghan, M.;
Casado, Mercedes;
Montero, Raquel;
Meavilla Olivas, Silvia Maria;
Artuch, Rafael;
Barić, Ivo;
Bartoloni, Franco;
Bellettato, Cinzia Maria

Publication type:

journal article

Xantoma del hueso temporal. A propósito de un caso.

Published in:

Revista Medica Herediana, 2021, v. 32, n. 3, p. 175, doi. 10.20453/rmh.v32i3.4061

By:

Salazar Minaya, Ray;
Boero Zunino, Gino

Publication type:

Article

Idiopathic central pontine and extrapontine myelinolysis in a child.

Published in:

Journal of Pediatric Neurosciences, 2019, v. 14, n. 2, p. 97, doi. 10.4103/jpn.JPN_158_18

By:

Kamath, Madhav;
Manjunath, Sneha

Publication type:

Article

Importance of acrocyanosis in delayed walking.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 1, p. 80, doi. 10.4103/1817-1745.154368

By:

Yiş, Uluç;
Polat, İpek;
Karakaya, Pakize;
Ayanoğlu, Müge;
Hiz, Ayşe Semra

Publication type:

Article

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings.

Published in:

Journal of Pediatric Neurosciences, 2011, v. 6, n. 2, p. 146, doi. 10.4103/1817-1745.92845

By:

Sen, Anitha;
Pillay, Rajesh Subramonia

Publication type:

Article

Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia.

Published in:

Journal of Pediatric Neurosciences, 2010, v. 5, n. 2, p. 129, doi. 10.4103/1817-1745.76110

By:

Bhardwaj, Parveen;
Sharma, Ravi;
Sharma, Minoo

Publication type:

Article

Xanthogranulomatous epididymo-orchitis: A single-institutional case series and systematic review.

Published in:

Indian Journal of Urology, 2023, v. 39, n. 1, p. 58, doi. 10.4103/iju.iju_270_22

By:

Vijayvergiya, Garima;
Gulwani, Hanni;
Ul Hasan, Shariq

Publication type:

Article

Nondiabetic Glucometabolic Status and Progression of Aortic Stiffness: The Whitehall II Study.

Published in:

2017

By:

McEniery, Carmel M.;
Wilkinson, Ian B.;
Johansen, Nanna B.;
Witte, Daniel R.;
Singh-Manoux, Archana;
Kivimaki, Mika;
Tabak, Adam G.;
Brunner, Eric J.;
Shipley, Martin J.

Publication type:

journal article

Which Clusters of Metabolic Syndrome Are the Most Associated with Serum Uric Acid?

Published in:

Medicina (1010660X), 2022, v. 58, n. 2, p. 297, doi. 10.3390/medicina58020297

By:

Mikolaitytė, Jurgita;
Badarienė, Jolita;
Puronaitė, Roma;
Čypienė, Alma;
Rutkauskienė, Irma;
Dadonienė, Jolanta;
Laucevičius, Aleksandras

Publication type:

Article

Multiple tuberous xanthomas diagnosed on fine-needle aspiration cytology -- Report of a rare case.

Published in:

CytoJournal, 2022, v. 19, p. 1, doi. 10.25259/Cytojournal_86_2020

By:

Gupta, Deepika;
Kaushal, Manju;
Jain, Swasti

Publication type:

Article

Association between anthropometric indices and cardiometabolic risk factors in pre-school children.

Published in:

2015

By:

Aristizabal, Juan C.;
Barona, Jacqueline;
Hoyos, Marcela;
Ruiz, Marcela;
Marín, Catalina

Publication type:

journal article

Potential biases in the classification, analysis and interpretations in cross-sectional study: commentaries - surrounding the article "resting heart rate: its correlations and potential for screening metabolic dysfunctions in adolescents".

Published in:

BMC Pediatrics, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2431-14-117

By:

de Moraes, Augusto César Ferreira;
Flores Cassenote, Alex Jones;
Moreno, Luis A.;
Carvalho, Heráclito Barbosa

Publication type:

Article

Locomotive syndrome is associated with body composition and cardiometabolic disorders in elderly Japanese women.

Published in:

BMC Geriatrics, 2016, v. 17, p. 1, doi. 10.1186/s12877-016-0339-6

By:

Misa Nakamura;
Yosuke Kobashi;
Hiroshi Hashizume;
Hiroyuki Oka;
Ryohei Kono;
Sachiko Nomura;
Akihiro Maeno;
Munehito Yoshida;
Hirotoshi Utsunomiya

Publication type:

Article

What Are the Roles of the Combined Oral Contraceptive Pill and Metformin in the Management of Polycystic Ovary Syndrome?

Published in:

OB/GYN Clinical Alert, 2020, v. 36, n. 10, p. N.PAG

By:

AHC MEDIA

Publication type:

Article

Cardiac Magnetic Resonance Imaging in Danon Disease.

Published in:

Cardiology, 2012, v. 121, n. 1, p. 27, doi. 10.1159/000336448

By:

Nucifora, Gaetano;
Miani, Daniela;
Piccoli, Gianluca;
Proclemer, Alessandro

Publication type:

Article

IDIOPATHIC CENTRAL PONTINE MYELINOLYSIS.

Published in:

Acta Marisiensis. Seria Medica, 2024, v. 70, p. 209

By:

Pop, Dariana;
Bărcuţean, Laura Iulia

Publication type:

Article

Physical and occupational therapy rehabilitation in the rare disease Marchiafava-Bignami.

Published in:

Revista Família, Ciclos de Vida e Saúde no Contexto Social (REFACS), 2022, v. 10, n. 2, p. 215, doi. 10.18554/refacs.v10i2.6141

By:

de Oliveira, Jonaina Fiorim Pereira;
Zuqui, Aline Caus;
Schiavo, Kellen Valladão;
Silva Gomes, Crystian Moraes

Publication type:

Article