Works matching DE "DIAGNOSIS of deficiency diseases"

Results: 115

Response to Invited Editorial: Intravenous iron use in pregnancy: Ironing out the issues and evidence.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2018, v. 58, n. 6, p. E28, doi. 10.1111/ajo.12895

By:

Saxon, Ben;
Minck, Sandy;
Crighton, Gemma;
Daly, James;
Sethna, Farah

Publication type:

Article

Outbreak of Beriberi Among Illegal Mainland Chinese Immigrants at a Detention Center in Taiwan.

Published in:

Public Health Reports, 2003, v. 118, n. 1, p. 59, doi. 10.1016/S0033-3549(04)50217-0

By:

Kow-Tong Chen;
Shing-Jer Twu;
Shu-Ti Chiou;
Wen-Harn Pan;
Hong-Jen Chang;
Serdula, Mary K.

Publication type:

Article

Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset.

Published in:

2009

By:

Joshi, Pushpa Raj;
Knape, Manuela;
Zierz, Stephan;
Deschauer, Marcus

Publication type:

Letter

Interference by vitamin B12-macrocomplexes: towards an effective detection and correct interpretation of hypo- and hypervitaminemia.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2024, v. 5, n. 4, p. 386, doi. 10.1515/almed-2024-0041

By:

Delgado, José A.;
Pastor, María I.;
Costa, Gemma;
Márquez, Nuria;
Bauça, Josep Miquel

Publication type:

Article

Early Neurophysiological Monitoring of Train of Four Assists in the Detection of Pseudocholinesterase Deficiency.

Published in:

Neurodiagnostic Journal, 2025, v. 65, n. 1, p. 57, doi. 10.1080/21646821.2024.2401641

By:

Celis, Victoria;
Gandhi, Shashank;
Overzet, Kathryn

Publication type:

Article

Primary coenzyme Q (CoQ) deficiencies and related nephropathies.

Published in:

Pediatric Nephrology, 2014, v. 29, n. 6, p. 961, doi. 10.1007/s00467-013-2482-z

By:

Ozaltin, Fatih

Publication type:

Article

Mysterious oral manifestations in a 6‐year‐old child.

Published in:

2024

By:

Debortoli, Cyril;
Catherine, Jean‐Hugues;
Falguiere, Arthur;
Lan, Romain;
Campana, Fabrice

Publication type:

Case Study

Severe Pseudocholinesterase Deficiency and ECT: a Case Report.

Published in:

Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2018, v. 31, n. 3, p. 312, doi. 10.5350/DAJPN2018310311

By:

Yildizhan, Eren;
Tomruk, Nesrin Buket;
Aytac, Hafize Miray;
Yildirim, Hakan;
Canbek, Ozge

Publication type:

Article

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.

Published in:

2004

By:

Head, R A;
de Goede, C G E L;
Newton, R W N;
Walter, J H;
McShane, M A;
Brown, R M;
Brown, G K

Publication type:

journal article

Challenges and opportunities in the assessment of zinc status.

Published in:

Nutrition & Dietetics, 2011, v. 68, n. 2, p. 95, doi. 10.1111/j.1747-0080.2011.01521.x

By:

Samman, Samir

Publication type:

Article

Effect of nutrient omission in the development of sunflower BRS-122 in greenhouse conditions.

Published in:

Revista Facultad Nacional de Agronomía Medellín, 2019, v. 72, n. 1, p. 8663, doi. 10.15446/rfnam.v72n1.69388

By:

Alves, Allan Nunes;
des de Souza, Felipe Gue;
Chaves, Lúcia Helena Garófalo;
de Sousa, Jorge Alves;
de Vasconcelos, Ana Carolina Feitosa

Publication type:

Article

Neurological presentations revealing acquired copper deficiency: diagnosis features, aetiologies and evolution in seven patients.

Published in:

Internal Medicine Journal, 2018, v. 48, n. 5, p. 535, doi. 10.1111/imj.13650

By:

Poujois, Aurélia;
Djebrani‐oussedik, Nouzha;
Ory‐magne, Fabienne;
Woimant, France

Publication type:

Article

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects.

Published in:

Clinical Case Reports, 2017, v. 5, n. 3, p. 315, doi. 10.1002/ccr3.699

By:

Baothman, Abdullah A.;
AlSobhi, Enaam;
Khayat, Hassan A.;
Alsulami, Raed E.;
Alkahtani, Abdulaziz S.;
Al‐Thobyani, Abdelraheem A.;
Marzouk, Yousef I.;
Abdelaal, Mohammad A.

Publication type:

Article

Characterization and Expression of KT/HAK/KUP Transporter Family Genes in Willow under Potassium Deficiency, Drought, and Salt Stresses.

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/2690760

By:

Liang, Meixia;
Gao, Yachao;
Mao, Tingting;
Zhang, Xiaoyan;
Zhang, Shaoying;
Zhang, Hongxia;
Song, Zhizhong

Publication type:

Article

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/1789514

By:

Han, Bing;
Cheng, Tong;
Zhu, Hui;
Yu, Jie;
Zhu, Wen-jiao;
Song, Huai-dong;
Yao, Haijun;
Qiao, Jie

Publication type:

Article

Practical tips for paediatricians: Assessment and management of young children with iron deficiency.

Published in:

Paediatrics & Child Health (1205-7088), 2018, v. 23, n. 7, p. 433, doi. 10.1093/pch/pxy045

By:

Parkin, Patricia C;
Borkhoff, Cornelia M

Publication type:

Article

Risk factors, practice variation and hematological outcomes of children identified with non-anemic iron deficiency following screening in primary care setting.

Published in:

Paediatrics & Child Health (1205-7088), 2015, v. 20, n. 6, p. 302, doi. 10.1093/pch/20.6.302

By:

Abdullah, Kawsari;
Thorpe, Kevin E.;
Maguire, Jonathon L.;
Birken, Catherine S.;
Fehlings, Darcy;
Hanley, Anthony J.;
Parkin, Patricia C

Publication type:

Article

Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation.

Published in:

Iranian Journal of Child Neurology, 2024, v. 18, n. 1, p. 131, doi. 10.22037/ijcn.v18i1.38971

By:

MOOSAVIAN, Toktam;
JAMALIPOUR SOUFI, Ghazaleh;
KAMFAR, Sharareh

Publication type:

Article

Stem cell deficiency: How to recognize it, what to do about it.

Published in:

Ocular Surgery News, 2014, p. 16

By:

Raju, Leela V.

Publication type:

Article

Molybdenum -- a scoping review for Nordic Nutrition Recommendations 2023.

Published in:

Food & Nutrition Research, 2023, v. 67, p. 1, doi. 10.29219/fnr.v67.10326

By:

Oskarsson, Agneta;
Kippler, Maria

Publication type:

Article

Myeloperoxidase Deficiency Manifesting as Pseudoneutropenia with Low Mean Peroxidase Index and High Monocyte Count in 4 Adult Patients.

Published in:

Laboratory Medicine, 2020, v. 51, n. 2, p. e16, doi. 10.1093/labmed/lmz060

By:

Roh, Soongki;
Ham, Ji Yeon;
Song, Kyung Eun;
Hwang, Narae;
Lee, Nan Young

Publication type:

Article

Serendipitous diagnosis of protein S deficiency.

Published in:

2002

By:

Aguirre, A.;
Tapia, J. L.;
Ciancio, S.;
Coniglio, J.

Publication type:

journal article

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

Vitamin D Insufficiency/Deficiency in HIV-Infected Inner City Youth.

Published in:

2014

By:

Poowuttikul, Pavadee;
Thomas, Ronald;
Hart, Benjamin;
Secord, Elizabeth

Publication type:

journal article

Left Pulmonary Artery Thrombosis in a Neonate with Left Lung Hypoplasia.

Published in:

Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/314256

By:

van Schendel, Matthias P.;
Visser, Douwe H.;
Rammeloo, Lukas A. J.;
Hazekamp, Mark G.;
Hruda, Jaroslav

Publication type:

Article

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Published in:

2006

By:

Debray, Francois G.;
Lambert, Marie;
Vanasse, Michel;
Decarie, Jean-Claude;
Cameron, Jessie;
Levandovskiy, Valeriy;
Robinson, Brian H.;
Mitchell, Grant A.

Publication type:

journal article

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.

Published in:

2005

By:

Hoffman, Trevor;
Simon, Erin;
Ficicioglu, Can;
Hoffman, Trevor L;
Simon, Erin M

Publication type:

journal article

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.

Published in:

1999

By:

Lissens, W.;
Vreken, P.;
Barth, P. G.;
Wijburg, F. A.;
Ruitenbeek, W.;
Wanders, R. J. A.;
Seneca, S.;
Liebaers, I.;
De Meirleir, L.;
Wanders, R J

Publication type:

journal article

Prevalence of growth hormone deficiency in middle-age adults recovering from stroke.

Published in:

Brain Injury, 2020, v. 34, n. 2, p. 276, doi. 10.1080/02699052.2019.1682195

By:

Kreber, Lisa A.;
Ashley, Mark J.;
Masel, Brent E.;
Singh, Charan K.;
Randle, Kevin D.;
Johnson, Christine;
Helvie, Richard;
Ashley, Matthew J.;
Griesbach, Grace S.

Publication type:

Article

Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey.

Published in:

Turkish Journal of Hematology, 2019, v. 36, n. 1, p. 37, doi. 10.4274/tjh.galenos.2018.2018.0230

By:

Ünal, Selma;
Karahan, Feryal;
Arıkoğlu, Tuğba;
Akar, Asuman;
Kuyucu, Semanur

Publication type:

Article

HOW TO DIAGNOSE AND MANAGE TESTOSTERONE DEFICIENCY IN ADULT MEN.

Published in:: Diabetes & Primary Care, 2018, v. 20, n. 5, p. 169
Publication type:: Article

Prevalence of Association of Dietary Habits with Chronic Energy Deficiency in Ethnic Adult Punjabi Population.

Published in:

Indian Journal of Community Health, 2024, v. 36, n. 3, p. 412, doi. 10.47203/IJCH.2024.v36i03.013

By:

Brar, Amrit Pal Singh;
Nagpal, Manisha;
Sadana, Pooja;
Sharma, Nishant;
Brar, Deepinder Pal Singh;
Kaur, Sandeep

Publication type:

Article

Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2024, v. 37, n. 1, p. 33, doi. 10.1089/ped.2022.0206

By:

Melo, Karina Mescouto de;
Tavares, Fabíola Scancetti;
Antunes, Thales Silva;
Condino-Neto, Antonio;
Silva Segundo, Gesmar Rodrigues;
Macedo, Antônio Carlos Tanajura de;
Ferreira, Alexandre Paz;
Valente, Cláudia França Cavalcante

Publication type:

Article

Biyotinidaz Eksikliği Şüphesiyle Başvuran Hastaların Klinik Bulguları ve BTD Geni Moleküler Analizi Sonuçları.

Published in:

Duzce Medical Journal, 2018, v. 20, n. 3, p. 77, doi. 10.18678/dtfd.489274

By:

ERÖZ, Recep;
TURAN, Betül;
DOĞAN, Mustafa;
YÜCE, Hüseyin;
KOCABAY, Kenan;
ÖZMERDİVENLİ, Recep

Publication type:

Article

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

Published in:

Acta Paediatrica, 2008, v. 97, n. 10, p. 1420, doi. 10.1111/j.1651-2227.2008.00952.x

By:

Summar, Marshall L;
Dobbelaere, Dries;
Brusilow, Saul;
Lee, Brendan

Publication type:

Article

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots.

Published in:

2000

By:

Spiekerkötter, U;
Schwahn, B;
Korall, H;
Trefz, FK;
Andresen, BS;
Wendel, U;
Spiekerkötter, U;
Trefz, F K;
Andresen, B S

Publication type:

journal article

Zinc deficiency in rapidly growing preterm infants.

Published in:

1998

By:

Obladen, M.;
Loui, A.;
Kampmann, W.;
Renz, H.

Publication type:

journal article

An internal pilot study for a randomized trial aimed at evaluating the effectiveness of iron interventions in children with non-anemic iron deficiency: the OptEC trial.

Published in:

2015

By:

Abdullah, Kawsari;
Thorpe, Kevin E.;
Mamak, Eva;
Maguire, Jonathon L.;
Birken, Catherine S.;
Fehlings, Darcy;
Hanley, Anthony J.;
Macarthur, Colin;
Zlotkin, Stanley H.;
Parkin, Patricia C.

Publication type:

journal article

A Deficiency Disorder Diagnosed with Dermoscope.

Published in:

Indian Journal of Dermatology, 2024, v. 69, n. 1, p. 86, doi. 10.4103/ijd.ijd_961_23

By:

Mani, Siddhart;
Rout, Aradhana;
Khandare, Manish

Publication type:

Article

Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

Published in:

Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0162-2

By:

Bozzola, Mauro;
Gertosio, Chiara;
Gnoli, Maria;
Baronio, Federico;
Pedrini, Elena;
Meazza, Cristina;
Sangiorgi, Luca

Publication type:

Article

Congenital biotinidase deficiency – MRI findings in two cases.

Published in:

Indian Journal of Radiology & Imaging, 2019, v. 29, n. 1, p. 99, doi. 10.4103/ijri.IJRI_159_18

By:

Ranjan, Rahul;
Taneja, Sunil;
Singh, Anil;
Gupta, Vikas

Publication type:

Article

Strands of useful information.

Published in:: Chemistry & Industry, 2012, v. 76, n. 2, p. 42, doi. 10.1002/cind.7602_13.x
Publication type:: Article

Analysis of calcium, magnesium, and zinc levels in hair of healthy students. Screening of calcium or magnesium deficiency hazard.

Published in:

Biofactors, 2000, v. 11, n. 1/2, p. 143, doi. 10.1002/biof.5520110142

By:

Lukasiak, Jerzy;
Cajzer, Daniel;
Jablonska-Kaszewska, Irena;
Dabrowska, Ewa;
Falkiewicz, Bogdan

Publication type:

Article

Nutritional Optic Neuropathies: State of the Art and Emerging Evidences.

Published in:

Nutrients, 2020, v. 12, n. 9, p. 2653, doi. 10.3390/nu12092653

By:

Roda, Matilde;
di Geronimo, Natalie;
Pellegrini, Marco;
Schiavi, Costantino

Publication type:

Article

Determination of Zinc Status in Humans: Which Indicator Should We Use?

Published in:

2015

By:

Wieringa, Frank T.;
Dijkhuizen, Marjoleine A.;
Fiorentino, Marion;
Laillou, Arnauld;
Berger, Jacques

Publication type:

Journal Article

Biomarkers of Selenium Status.

Published in:

2015

By:

Combs Jr., Gerald F.

Publication type:

Journal Article

Survey of Australian clinicians' antenatal care and management practices in pregnant women with a history of bariatric surgery.

Published in:

Obstetric Medicine (1753-495X), 2023, v. 16, n. 2, p. 88, doi. 10.1177/1753495X221106085

By:

Elder-Robinson, Elaina C;
de Jersey, Susan;
Porteous, Helen;
Huxtable, Shannon L;
Palmer, Michelle A

Publication type:

Article

Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation.

Published in:

1987

By:

Matchar, David B.;
Feussner, John R.;
Millington, David S.;
Wilkinson Jr., Robert H.;
Watson, Douglas J.;
Gale, Diane;
Matchar, D B;
Feussner, J R;
Millington, D S;
Wilkinson, R H Jr;
Watson, D J;
Gale, D

Publication type:

journal article

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 431, doi. 10.4274/jcrpe.galenos.2022.2021-12-3

By:

Kardelen, Aslı Derya;
Özturan, Esin Karakılıç;
Poyrazoğlu, Şükran;
Baş, Firdevs;
Ceylaner, Serdar;
Joustra, Sjoerd D.;
Wit, Jan M.;
Darendeliler, Feyza

Publication type:

Article

A Proposal to Develop New References for Serum IGF-I Levels in Children.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 2, p. 140, doi. 10.4274/jcrpe.galenos.2020.2020.0040

By:

Ranke, Michael B.

Publication type:

Article