Works matching DE "DIAGNOSIS of deficiency diseases"

Results: 117

Brief Report: Decreased Bone Health in Children with Autism Spectrum Disorder and Avoidant Restrictive Food Intake Disorder.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 6, p. 2179, doi. 10.1007/s10803-023-05976-x

By:

Islam, Noreen;
Hathaway, Kristin L.;
Anderson, Brooke S.;
Sharp, William G.;
Loechner, Karen J.

Publication type:

Article

Biotin Deficiency Caused By Long-Term Raw Egg Consumption: A Case Report.

Published in:

Nutritional Perspectives: Journal of the Council on Nutrition, 2023, v. 46, n. 3, p. 17

By:

Krabbe, Jeffrey P.

Publication type:

Article

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

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

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

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

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

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

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

Potassium: What if I'm Getting Too Much or Not Enough?

Published in:: 2015
Publication type:: journal 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

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

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

Recommendations for dispensing magnesium products in pharmacy practice and primary health care.

Published in:

Family Medicine & Primary Care Review, 2024, v. 26, n. 4, p. 538, doi. 10.5114/fmpcr.2024.144926

By:

MERKS, PIOTR;
RELIGIONI, URSZULA;
JAKUBOWSKA, MARTA;
PARAKKAL, SAINUL ABIDEEN;
ABDULSALIM, SUHAJ;
NEUMANN-PODCZASKA, AGNIESZKA;
CHEŁSTOWSKA, BEATA;
UNNIKRISHNAN, MAZHUVANCHERY KESAVAN;
SZATKO, ALICJA;
GLINICKI, PIOTR;
THORAKKATTIL, SHABEER ALI;
DONIEC, ZBIGNIEW;
VAILLANCOURT, REGIS;
HERING, DAGMARA

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

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

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

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

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

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 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

A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma.

Published in:

Indian Journal of Dermatology, 2022, v. 67, n. 3, p. 314, doi. 10.4103/ijd.IJD_112_17

By:

Behera, Binodini;
Mohapatra, Liza;
Sahu, Bharati;
Patnaik, Monali

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

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

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

Improved and more effective algorithms to screen for nutrient deficiencies after bariatric surgery.

Published in:

2017

By:

Bazuin, I;
Pouwels, S;
Houterman, S;
Nienhuijs, S W;
Smulders, J F;
Boer, A K

Publication type:

journal 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

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

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

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

An Unusual Case of Biotinidase Deficiency with Fingertip Desquamation.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2021, v. 15, n. 3, p. 74, doi. 10.4103/tjd.tjd_34_21

By:

Olgaç, Asburçe;
Kilavuz, Sebile;
Kılıç, Mustafa;
Özgül, Rıza Köksal;
Kasapkara, Çiğdem Seher

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

Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report.

Published in:

2019

By:

Takeno, Ayumu;
Yamamoto, Masahiro;
Morita, Miwa;
Tanaka, Sayuri;
Kanazawa, Ippei;
Yamauchi, Mika;
Kaneko, Sakae;
Sugimoto, Toshitsugu

Publication type:

Case Study

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report.

Published in:

BMC Endocrine Disorders, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12902-018-0295-6

By:

Yuan, Xianxian;
Lu, Lin;
Chen, Shi;
Jiang, Jun;
Wang, Xiangqing;
Liu, Zhihui;
Zhu, Huijuan;
Pan, Hui;
Lu, Zhaolin

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

Broadening the Female Athlete Triad: Relative Energy Deficiency in Sport-In Reply.

Published in:

2019

By:

Merrigan, Brian;
Leggit, Jeffrey;
Chamberlain, Rachel

Publication type:

Letter to the Editor