Works matching DE "METABOLIC disorder diagnosis"

Results: 424

Glutaric Aciduria Type 1: An Atypical Presentation.

Published in:

2022

By:

Simalti, Ashish;
Goswami, Jyotindra;
Simalti, Ashish K;
Goswami, Jyotindra N

Publication type:

Case Study

Unexplained encephalopathy with phenytoin toxicity - hyperammonemia, the underlying cause.

Published in:

2018

By:

Pandey, Sudhakar;
Sharma, Praveen K;
Garg, Ravindra K;
Takalkar, Kedar

Publication type:

Letter

Direct Monitoring of γ-Glutamyl Transpeptidase Activity In Vivo Using a Hyperpolarized <sup>13</sup>C-Labeled Molecular Probe.

Published in:

Angewandte Chemie, 2016, v. 128, n. 36, p. 10784, doi. 10.1002/ange.201603731

By:

Nishihara, Tatsuya;
Yoshihara, Hikari A. I.;
Nonaka, Hiroshi;
Takakusagi, Yoichi;
Hyodo, Fuminori;
Ichikawa, Kazuhiro;
Can, Emine;
Bastiaansen, Jessica A. M.;
Takado, Yuhei;
Comment, Arnaud;
Sando, Shinsuke

Publication type:

Article

Hyperkalaemia associated with hydroxyurea in a patient with polycythaemia vera.

Published in:

2011

By:

Marusic, Srecko;
Gojo-Tomic, Nives;
Bacic-Vrca, Vesna;
Bozikov, Velimir

Publication type:

Letter

Xanthelasma Is Associated with an Increased Amount of Epicardial Adipose Tissue.

Published in:

2016

By:

akyüz, ali Rıza;
ağaç, Mustafa Tarık;
Turan, Turhan;
Şahin, Sinan;
Kul, Selim;
Korkmaz, Levent;
Erkuş, Musluhittin Emre;
Erkan, Hakan;
Çelik, Şükrü

Publication type:

journal article

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 25, doi. 10.3390/ijns10010025

By:

Gonçalves, Maria Miguel;
Marcão, Ana;
Sousa, Carmen;
Nogueira, Célia;
Fonseca, Helena;
Rocha, Hugo;
Vilarinho, Laura

Publication type:

Article

Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 63, doi. 10.3390/ijns8040063

By:

Ngan, Olivia M. Y.;
Wong, Wing Ki;
Tam, Janice Ching;
Li, Chi Kong

Publication type:

Article

SDN Biobank: Bioresource of Human Samples Associated with Functional and/or Morphological Bioimaging Results for the Study of Oncological, Cardiological, Neurological, and Metabolic Diseases.

Published in:

Open Journal of Bioresources, 2017, v. 4, p. 1, doi. 10.5334/ojb.26

By:

Mirabelli, Peppino;
Incoronato, Mariarosaria;
Coppola, Luigi;
Infante, Teresa;
Parente, Chiara Anna;
Nicolai, Emanuele;
Soricelli, Andrea;
Salvatore, Marco

Publication type:

Article

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 6, p. 428, doi. 10.3969/j.issn.1672-6731.2018.06.008

By:

LIU Xiao-jun;
ZHANG Pei-yuan;
LEI Mei-fang;
WEI Xin-ping;
YU Xiao-li;
LI Dong;
SHU Jian-bo;
CAI Chun-quan;
ZHANG Yu-qin

Publication type:

Article

Gastric atrophy and xanthelasma are markers for predicting the development of early gastric cancer.

Published in:

2016

By:

Sekikawa, Akira;
Fukui, Hirokazu;
Sada, Ryota;
Fukuhara, Manabu;
Marui, Saiko;
Tanke, Gensho;
Endo, Masatsugu;
Ohara, Yoshiaki;
Matsuda, Fumihiro;
Nakajima, Jun;
Henmi, Shinichiro;
Saito, Sumio;
Tsumura, Takehiko;
Maruo, Takanori;
Kimura, Toru;
Osaki, Yukio

Publication type:

journal article

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration.

Published in:

Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/453752

By:

Gascon-Bayarri, Jordi;
Campdelacreu, Jaume;
Estela, Jordi;
Reñé, Ramon

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

Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians.

Published in:

Journal of Medical Internet Research, 2013, v. 15, n. 5, p. 1, doi. 10.2196/jmir.2495

By:

Chen, Wei-Hsin;
Hsieh, Sheau-Ling;
Hsu, Kai-Ping;
Chen, Han-Ping;
Su, Xing-Yu;
Tseng, Yi-Ju;
Chien, Yin-Hsiu;
Hwu, Wuh-Liang;
Lai, Feipei;
Eysenbach, G

Publication type:

Article

Unusual painful skin ulceration.

Published in:

Clinical & Experimental Dermatology, 2011, v. 36, n. 1, p. 101, doi. 10.1111/j.1365-2230.2010.03867.x

By:

Brokalaki, E. I.;
Hillen, U.;
Koerber, A.;
Dissemond, J.

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

A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment.

Published in:

2005

By:

Toriumi, Yoshitaka;
Murata, Kohji;
Taketani, Takeshi;
Uchiyama, Atsushi;
Ohie, Takaharu;
Yamaguchi, Seiji

Publication type:

journal article

Deterioration of metabolic parameters during short-term psychiatric inpatient treatment: A prospective naturalistic study.

Published in:

International Journal of Psychiatry in Clinical Practice, 2012, v. 16, n. 1, p. 8, doi. 10.3109/13651501.2011.605953

By:

Rittmannsberger, Hans;
Fellinger, Johannes;
Foff, Christian;
Walli, Gertraud;
Zaunmüller, Thomas

Publication type:

Article

Elevated Alkaline Phosphatase in Children: An Algorithm to Determine When a "Wait and See" Approach is Optimal.

Published in:

Clinical Medicine Insights: Pediatrics, 2011, n. 5, p. 15, doi. 10.4137/CMPed.S6872

By:

Otero, Jaclyn L.;
Gonz lez-Peralta, Regino P.;
Andres, Joel M.;
Jolley, Christopher D.;
Novak, Don A.;
Haafiz, Allah

Publication type:

Article

Oxylipins Derived from PUFAs in Cardiometabolic Diseases: Mechanism of Actions and Possible Nutritional Interactions.

Published in:

Nutrients, 2024, v. 16, n. 22, p. 3812, doi. 10.3390/nu16223812

By:

Ağagündüz, Duygu;
Yeşildemir, Özge;
Koçyiğit, Emine;
Koçak, Tevfik;
Özen Ünaldı, Buket;
Ayakdaş, Gamze;
Budán, Ferenc

Publication type:

Article

Exploring the Role of Serum Osteonectin and Hsp27 in Pediatric MAFLD Diagnosis and Cardiometabolic Health.

Published in:

Nutrients, 2024, v. 16, n. 6, p. 866, doi. 10.3390/nu16060866

By:

Bălănescu, Anca;
Bălănescu, Paul-Cristian;
Codreanu, Ioana Florentina;
Stan, Iustina-Violeta;
Comanici, Valentina-Daniela;
Robu, Alina Maria;
Ciomârtan, Tatiana

Publication type:

Article

İnspiratuvar stridor klinik bulgusu ile saptanan argininosüksinik asidüri: yenidoğan olgusu.

Published in:

Türk Pediatri Arşivi, 2011, v. 46, n. 1, p. 84, doi. 10.4274/tpa.46.15

By:

Can, Emrah;
Bülbül, Ali;
Uslu, Sinan;
Nuhoğlu, Asiye

Publication type:

Article

Multiple Sclerosis: Diagnosis and Differential Diagnosis.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2018, v. 55, p. S1, doi. 10.29399/npa.23418

By:

ÖMERHOCA, Sami;
YAZICI AKKAŞ, Sinem;
KALE İÇEN, Nilüfer

Publication type:

Article

A Marchiafava-Bignami Patient with Mild Symptoms and the Role of Diffusion-Weighted Magnetic Resonance Imaging in the Diagnosis.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2011, v. 48, n. 4, p. 277, doi. 10.4274/npa.y5861

By:

BİLGİÇ, Başar;
ARSLAN, Ali Bilgin;
BULUT, Hüseyin;
BAYRAM, Ali;
HIZLI, Feride GÖKBEN

Publication type:

Article

Socioeconomic inequalities in the prevalence of biomarkers of cardio-metabolic disease in South Korea: Comparison of the Health Examinees Study to a nationally representative survey.

Published in:

PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195091

By:

Kim, Sujin;
Oh, Juhwan;
Heo, Jongho;
Lee, Hwa-Young;
Lee, Jong-Koo;
Subramanian, S. V.;
Kang, Daehee

Publication type:

Article

Choice of anesthesia in molybdenum cofactor deficiency: A case report.

Published in:

Journal of Research in Medical Sciences, 2014, v. 19, n. 11, p. 1103

By:

Alkan, Metin;
Kip, Gülay;
Şahin, Şaziye;
Atabek, Didem

Publication type:

Article

Race/ethnic comparisons of waist-to-height ratio for cardiometabolic screening: The study of women's health across the nation.

Published in:

American Journal of Human Biology, 2017, v. 29, n. 1, p. n/a, doi. 10.1002/ajhb.22909

By:

Kazlauskaite, Rasa;
Avery‐Mamer, Elizabeth F.;
Li, Hong;
Chataut, Chandra P.;
Janssen, Imke;
Powell, Lynda H.;
Kravitz, Howard M.

Publication type:

Article

"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency.

Published in:

Annals of Pediatric Cardiology, 2019, v. 12, n. 3, p. 325, doi. 10.4103/apc.APC_136_18

By:

Stephanie, Paquay;
Catherine, Barrea;
Thierry, Sluysmans;
Jean-Luc, Vachiery;
Isabelle, Loeckx;
Sara, Seneca;
Christophe, Vô;
Marie-Cecile, Nassogne

Publication type:

Article

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

KIDNEY STONES: COMPOSITION, FREQUENCY AND RELATION TO METABOLIC DIAGNOSIS.

Published in:

Medicina (Buenos Aires), 2016, v. 76, n. 6, p. 343

By:

SPIVACOW, FRANCISCO R.;
DEL VALLE, ELISA E.;
LORES, ERNESTO;
REY, PAULA G.

Publication type:

Article

An unusual rash in a middle-aged man.

Published in:

2014

By:

Pandey, Ambarish;
Aday, Ariel

Publication type:

journal article

Diagnosis and Management of Negative Energy Balance and Associated Production Diseases in Bovines.

Published in:

Intas Polivet, 2014, v. 15, n. 2, p. 497

By:

Randhawa, S. N. S.;
Ranjan, Rakesh;
Singh, Randhir;
NaimiChand

Publication type:

Article

Diagnosis and Treatment of Oncologic Emergencies.

Published in:

Radiologic Technology, 2019, v. 91, n. 2, p. 161

By:

Koth, Jana

Publication type:

Article

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Published in:

2019

By:

Sobrido, María-Jesús;
Bauer, Peter;
de Koning, Tom;
Klopstock, Thomas;
Nadjar, Yann;
Patterson, Marc C;
Synofzik, Matthis;
Hendriksz, Chris J

Publication type:

journal article

Influence of body mass index and gender on growth hormone (GH) responses to GH-releasing hormone plus arginine and insulin tolerance tests.

Published in:

2005

By:

Qu, Xiao-Dan;
Gaw Gonzalo, Irene T;
Al Sayed, Mohammed Y;
Cohan, Pejman;
Christenson, Peter D;
Swerdloff, Ronald S;
Kelly, Daniel F;
Wang, Christina

Publication type:

journal article

The impact of cranial irradiation on GH responsiveness to GHRH plus GH-releasing peptide-6.

Published in:

2002

By:

POPOVIC, VERA;
PEKIC, SANDRA;
GOLUBICIC, IVANA;
DOKNIC, MIRA;
DIEGUEZ, CARLOS;
CASANUEVA, FELIPE F.

Publication type:

journal article

Hypertriglyceridemic Waist - a Simple Clinical Tool to Detect Cardiometabolic Risk: Comparison With Harmonized Definition of Metabolic Syndrome.

Published in:

Physiological Research, 2015, v. 64, p. S385, doi. 10.33549/physiolres.933198

By:

VAVERKOVÁ, H.;
KARÁSEK, D.;
NOVOTNÝ, D.;
HALENKA, M.;
ORSÁG, J.;
SLAVÍK, L.

Publication type:

Article

Short-Term Regulation of Adiponectin Secretion in Rat Adipocytes.

Published in:

Physiological Research, 2011, v. 60, n. 3, p. 521, doi. 10.33549/physiolres.931971

By:

SZKUDELSKI, T.;
NOGOWSKI, L.;
SZKUDELSKA, K.

Publication type:

Article

Growth differentiation factor 15: A novel biomarker with high clinical potential.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2019, v. 56, n. 5, p. 333, doi. 10.1080/10408363.2019.1615034

By:

Desmedt, Stéphanie;
Desmedt, Valérie;
De Vos, Leen;
Delanghe, Joris R.;
Speeckaert, Reinhart;
Speeckaert, Marijn M.

Publication type:

Article

Mondayitis.

Published in:

2015

By:

Hwang, Yun Tae;
Kang, Amy

Publication type:

journal article

Hyperammonemic coma in a post-partum patient with undiagnosed urea cycle defect.

Published in:

Indian Journal of Critical Care Medicine, 2013, v. 17, n. 2, p. 107, doi. 10.4103/0972-5229.114816

By:

Dash, Sananta Kumar;
Chauhan, Munish;
Varma, Vishakh;
Sharma, Rakesh;
Kansal, Sudha;
Chawla, Rajesh

Publication type:

Article

Facial multiple xanthogranuloma in an adult.

Published in:

2017

By:

Gu, Ankang;
Guo, Haixia;
Zhang, Litao;
Ma, Faku

Publication type:

Case Study

Senile-onset ochronosis.

Published in:

2016

By:

Akpolat, Nebahat Demet;
Akpolat, Ahmet Onur;
Metin, Ahmet;
Akpola, Ahmet Onur

Publication type:

Case Study

Multiple verruciform xanthomas following bone marrow transplant.

Published in:

2016

By:

Ruzeng Xue;
Wei Su;
Xiaoping Pei;
Lining Huang;
Elbendary, Amira;
Zhiqiang Chen;
Xue, Ruzeng;
Su, Wei;
Pei, Xiaoping;
Huang, Lining;
Chen, Zhiqiang

Publication type:

Case Study

Spectrum of periorbital dermatoses in South Indian population.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2013, v. 79, n. 3, p. 399, doi. 10.4103/0378-6323.110762

By:

Besra, Laxman;
Jaisankar, Telanseri J.;
Thappa, Devinder Mohan;
Malathi, Munisamy;
Kumari, Rashmi

Publication type:

Article

From darkening of urine is the early sign of alkaptonuria.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2008, v. 74, n. 6, p. 705, doi. 10.4103/0378-6323.45142

By:

Peker, Erdal;
Yonden, Zafer;
Sogut, Sadik

Publication type:

Article

Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 233, doi. 10.1080/15257770.2013.854381

By:

Castro, M.;
Carrillo, R.;
García, F.;
Sanz, P.;
Ferrer, I.;
Ruiz-Sala, P.;
Vega, A. I.;
Ruíz Desviat, L.;
Pérez, B.;
Pérez-Cerdá, C.;
Merinero, B.;
Ugarte, M.

Publication type:

Article

Relationship of serum zinc with high-impact clinical-metabolic profiles in Mexican population.

Published in:

Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2023, v. 10, n. 2, p. 51, doi. 10.24875/RME.22000041

By:

GARCÍA-ARAGÓN, KARLA H.;
ZAMORA-GINEZ, IRMA;
BAEZ-DUARTE, BLANCA G.;
MENESES-ZAMORA, PAOLA;
RAMOS-ROMERO, ESMERALDA

Publication type:

Article

Central pontine myelinolysis as a rare complication of uncontrolled diabetes mellitus, in the absence of other electrolyte disturbances.

Published in:

2024

By:

Wang, Holly;
Debuque, Ryan;
Sim, Ie‐Wen

Publication type:

Case Study