Works matching DE "DIAGNOSIS of deficiency diseases"

Results: 117

Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology.

Published in:

Osteoporosis International, 2023, v. 34, n. 9, p. 1647, doi. 10.1007/s00198-023-06749-z

By:

Rauf, Muhammad A.;
Kotecha, Jalpa;
Moss, Katie

Publication type:

Article

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 74, doi. 10.3390/ijns10040074

By:

Wong, Tsz Sum;
Wong, Sheila Suet Na;
Kwok, Anne Mei Kwun;
Wu, Helen;
Law, Hiu Fung;
Lam, Shirley;
Yeung, Matthew Chun Wing;
Chan, Toby Chun Hei;
Leung, Gordon;
Mak, Chloe Miu;
Belaramani, Kiran Moti;
Fung, Cheuk Wing

Publication type:

Article

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 48, doi. 10.3390/ijns9030048

By:

Baydakova, Galina V.;
Tsygankova, Polina G.;
Pechatnikova, Natalia L.;
Bazhanova, Olga A.;
Nazarenko, Yana D.;
Zakharova, Ekaterina Y.

Publication type:

Article

Prevalence of anaemia, iron, and vitamin deficiencies in the health system in the Republic of Ireland: a retrospective cohort study.

Published in:

BJGP Open, 2024, v. 8, n. 2, p. 1, doi. 10.3399/BJGPO.2023.0126

By:

Clancy, Conor Cian;
Browne, Leonard D.;
Gilligan, Robert;
Blake, Ophelia;
Stack, Austin G.

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

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

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

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 6, p. 587

By:

Coşkun, Turgay;
Aydın, Halil İbrahim;
Kılıç, Mustafa;
Dursun, Ali;
Haliloğlu, Göknur;
Topaloğlu, Haluk;
Karlı-Oğuz, Kader;
de Koning, Tom J.

Publication type:

Article

Cutaneous side effects caused by treatment for inflammatory bowel disease.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2016, v. 73, n. 4, p. 382, doi. 10.2298/VSP151123023D

By:

Tarabar, Dino;
Sekulović, Lidija Kandolf;
Tatomirović, Željka;
Mijušković, Željko;
Milenković, Zoran;
Tarabar, Olivera;
Broćić, Tanja Pecelj

Publication type:

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

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

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

Surgical Management of Obesity: Current State of Procedure Evolution and Strategies to Optimize Outcomes.

Published in:

2011

By:

Miller, Marcus R.;
Choban, Patricia S.

Publication type:

Journal 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

Flow Cytometry is a Reliable Tool in the Diagnosis of STK4 Deficiency.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2020, v. 18, n. 3, p. 113, doi. 10.21911/aai.518

By:

OSKAY HALACLI, Sevil;
CAGDAS, Deniz;
TEZCAN, Ilhan

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

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

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

EFFECTS OF EXERCISE ON THE MARKERS OF IRON STATUS IN SERUM OF CROSS-COUNTRY SKIERS.

Published in:

Biology of Sport, 2010, v. 27, n. 4, p. 241, doi. 10.5604/20831862.927488

By:

Malczewska-Lenczowska, J.;
Stupnicki, R.;
Gabryé, T.

Publication type:

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

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

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

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

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

Minimum allopurinol dose for adenine phosphoribosyl transferase deficiency.

Published in:

Pediatrics International, 2017, v. 59, n. 10, p. 1097, doi. 10.1111/ped.13350

By:

Oyake, Chisato;
Ikeda, Hirokazu;
Fuyama, Masaki;
Watanabe, Tsuneki;
Isoyama, Keiichi

Publication type:

Article

A case of d-bifunctional protein deficiency: Clinical, biochemical and molecular investigations.

Published in:

Pediatrics International, 2011, v. 53, n. 4, p. 583, doi. 10.1111/j.1442-200X.2010.03255.x

By:

Ghirri, Paolo;
Vuerich, Marco;
Ferdinandusse, Sacha;
Waterham, Hans R.;
Guzzetta, Andrea;
Bianchi, Maria C.;
Boldrini, Antonio;
Wanders, Ronald J.A.

Publication type:

Article

Clinical management of short children with low serum immunoglobulin but no immunodeficiency features.

Published in:

Pediatrics International, 2010, v. 52, n. 4, p. 626, doi. 10.1111/j.1442-200X.2010.03103.x

By:

Meazza, Cristina;
Cerutti, Paola;
Pagani, Sara;
Boncimino, Agata;
Marconi, Massimo;
Avanzini, Antonia;
Bozzola, Mauro

Publication type:

Article

Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency.

Published in:

Pediatrics International, 2010, v. 52, n. 4, p. e181, doi. 10.1111/j.1442-200X.2010.03112.x

By:

Sato, Satoshi;
Ioi, Hiroaki;
Kashiwagi, Yasuyo;
Kawashima, Hisashi;
Miyajima, Tasuku;
Naito, Etsuo;
Hoshika, Akinori

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

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

Management of growth hormone deficiency in adults.

Published in:

Prescriber, 2015, v. 26, n. 23-24, p. 29, doi. 10.1002/psb.1422

By:

Bujanova, Jana;
Cummings, Michael H

Publication type:

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

Early Predictive Factors of Hypofibrinogenemia in Acute Trauma Patients.

Published in:

Journal of Emergencies, Trauma & Shock, 2018, v. 11, n. 1, p. 2, doi. 10.4103/JETS.JETS_83_17

By:

Radjou, Angeline

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

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

CASE STUDY: ACRODERMATITIS ENTEROPATHICA OR ACQUIRED ZINC DEFICIENCY.

Published in:

Dermatological Nursing, 2022, v. 21, n. 4, p. 10

By:

Lawton, Sandra;
Walker, Emily

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

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

A Proposal for the Interpretation of Serum IGF-I Concentration as Part of Laboratory Screening in Children with Growth Failure.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 2, p. 130, doi. 10.4274/jcrpe.galenos.2019.2019.0176

By:

Wit, Jan M.;
Bidlingmaier, Martin;
de Bruin, Christiaan;
Oostdijk, Wilma

Publication type:

Article

Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 4, p. 377

By:

Unal, Edip;
Yıldırım, Ruken;
Taş, Funda Feryal;
Demir, Vasfiye;
Onay, Hüseyin;
Haspolat, Yusuf Kenan

Publication type:

Article

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 1, p. 68, doi. 10.4274/jcrpe.4638

By:

Çetinkaya, Semra;
Güran, Tülay;
Kurnaz, Erdal;
Keskin, Melikşah;
Sağsak, Elif;
Erdeve, Senay Savaş;
Suntharalingham, Jenifer P.;
Buonocore, Federica;
Achermann, John C.;
Aycan, Zehra

Publication type:

Article

A Critical Appraisal of Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome Patients in Turkey.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, p. 490, doi. 10.4274/jcrpe.3209

By:

Abalı, Zehra Yavaş;
Darendeliler, Feyza;
Neyzi, Olcay

Publication type:

Article

Breast-Milk Iodine Concentrations, Iodine Status, and Thyroid Function of Breastfed Infants Aged 2-4 Months and Their Mothers Residing in a South African Township.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, p. 381, doi. 10.4274/jcrpe.2720

By:

Osei, Jennifer;
Andersson, Maria;
van der Reijden, Olivia;
Dold, Susanne;
Smuts, Cornelius M.;
Baumgartner, Jeannine

Publication type:

Article

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 3, p. 356, doi. 10.4274/jcrpe.2824

By:

Üstyol, Ala;
Atabek, Mehmet Emre;
Taylor, Norman;
Yeung, Matthew Chun-wing;
Chan, Angel O. K.

Publication type:

Article

Excess vs. Deficiency in America.

Published in:

California Journal of Oriental Medicine (CJOM), 2013, v. 24, n. 2, p. 4

By:

Kihn, E. Douglas

Publication type:

Article

Nutritional screening in hospitalized pediatric patients: a systematic review.

Published in:

Jornal de Pediatria, 2016, v. 92, n. 4, p. 343, doi. 10.1016/j.jped.2015.08.011

By:

Fonseca Teixeiraa, Adriana;
Araújo Lourenço Viana, Kátia Danielle

Publication type:

Article

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

Published in:

BMC Endocrine Disorders, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12902-023-01373-8

By:

Obata, Yoshinari;
Takayama, Kana;
Nishikubo, Hideyuki;
Tobimatsu, Aoki;
Matsuda, Izumi;
Uehara, Yuhei;
Maruo, Yumiko;
Sho, Hiroyuki;
Kosugi, Motohiro;
Yasuda, Tetsuyuki

Publication type:

Article