Works matching DE "GALACTOSEMIA"

Results: 227

Brain MRI in a patient with classical galactosemia: acute event of unilateral hemispheric cerebral edema.

Published in:

2017

By:

Oliveira, Tiago;
Soares-Fernandes, João

Publication type:

Letter

Acute liver failure in newborns.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 2, p. 108, doi. 10.5152/TurkArchPediatr.2021.190205

By:

Karadağ, Nilgün;
Güneş, Aslı Okbay;
Karatekin, Güner

Publication type:

Article

Crystals Hold the Clue.

Published in:

2017

By:

Varghese, Asha K.;
Shibu, T. S.;
Pushpalatha, M.

Publication type:

Case Study

Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1959

By:

Nguyen, Tat‐Thanh;
Le, Quang‐Thanh;
Hoang, Diem‐Tuyet Thi;
Du Nguyen, Huu;
Ha, Thi Minh Thi;
Nguyen, My‐Nhi Ba;
Ta, Thanh‐Thuy Thi;
Tran, Nhat Thang;
Trinh, Thu Huong Nhat;
Doan, Kim Phuong Thi;
Lam, Duc Tam;
Tran, Son Tra Thi;
Nguyen, Thanh Xuan;
Le, Hong‐Thinh;
Ha, Van Tuan;
Nguyen, Manh Hoan;
Le, Ba‐Liem Kim;
Duong, My Linh;
Pham, Trung Ha;
Tran, Anh Tuan

Publication type:

Article

Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 484, doi. 10.1002/mgg3.94

By:

Coelho, Ana I.;
Trabuco, Matilde;
Ramos, Ruben;
Silva, Maria João;
Tavares de Almeida, Isabel;
Leandro, Paula;
Rivera, Isabel;
Vicente, João B.

Publication type:

Article

Purpura fulminans in a newborn infant with galactosemia.

Published in:

2010

By:

Zenciroglu, Aysegul;
Ipek, Mehmet Sah;
Aydin, Mustafa;
Kara, Abdurrahman;
Okumus, Nurullah;
Kilic, Mustafa

Publication type:

journal article

Disorders Transmitted Genetically II. Autosomal Recessive Disorders.

Published in:: Clinical Pediatrics, 1970, v. 9, n. S1, p. 259
Publication type:: Article

Galactosemia.

Published in:: 1970
Publication type:: Book Review

Hypoglycemia In Infancy.

Published in:: Clinical Pediatrics, 1967, v. 6, n. 2, p. 94
Publication type:: Article

Erratum.

Published in:: 1966
Publication type:: Correction Notice

Nutritional Therapy of Galactosemia.

Published in:

Clinical Pediatrics, 1965, v. 4, n. 10, p. 571, doi. 10.1177/000992286500401003

By:

Koch, Richard;
Acosta, Phyllis;
Donnell, George;
Lieberman, Ellin

Publication type:

Article

NIH conference. Aldose reductase and complications of diabetes.

Published in:

1984

By:

Cogan, D G;
Kinoshita, J H;
Kador, P F;
Robison, G;
Datilis, M B;
Cobo, L M;
Kupfer, C

Publication type:

journal article

Letters to the Editor.

Published in:

2006

By:

Hyde, Philip;
Betts, Peter

Publication type:

Letter

GASTROGRAFIN ASPIRATION IN A NEONATE WITH TRACHEOESOPHAGEAL FISTULA.

Published in:

Journal of Paediatrics & Child Health, 2000, v. 36, n. 1, p. 94, doi. 10.1046/j.1440-1754.2000.0462a.x

By:

Badawi, Nadia

Publication type:

Article

Classical galactosaemia in Chinese: A case report and review of disease incidence.

Published in:

1999

By:

Cheung;
Tang;
Hsiao;
Law;
Wong;
Ng;
Pang;
Applegarth;
Fok;
Hjelm;
Tang, Nls;
Cheung, K L;
Hsiao, K J;
Law, L K;
Wong, W;
Ng, P C;
Pang, C P;
Applegarth, D A;
Fok, T F;
Hjelm, N M

Publication type:

journal article

Galactosaemia in Chinese.

Published in:

1999

By:

Kahler, S.G.

Publication type:

journal article

Neurologic Sequela in a Patient With Galactosemia Potentially Mediated by Interleukin-11 Dysfunction.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 7, p. 922, doi. 10.1177/0883073814540520

By:

Winter, Gidon N.;
Ben-Pazi, Hilla

Publication type:

Article

Galactosemia and phantom absence seizures.

Published in:

Journal of Pediatric Neurosciences, 2014, v. 9, n. 3, p. 253, doi. 10.4103/1817-1745.147581

By:

Aydin-Özemir, Zeynep;
Tektürk, Pinar;
Uyguner, Zehra Oya;
Baykan, Betül

Publication type:

Article

STUDY OF THE KNOWLEDGE OF INHERITED METABOLIC DISORDERS AMONG PATIENTS AND THEIR FAMILIES IN THE IRISH POPULATION.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 65

By:

O'Shea, Rosie;
Treacy, Eileen;
Murphy, Anne Marie;
Lynch, Sally Ann;
Lambert, Deborah

Publication type:

Article

Study of the Knowledge of Inherited Metabolic Disorders among patients and their families in the Irish population.

Published in:

Ulster Medical Journal, 2008, v. 77, n. 1, p. 73

By:

O'Shea, Rosie;
Treacy, Eileen;
Murphy, Anne Marie;
Lynch, Sally Ann;
Lambert, Deborah

Publication type:

Article

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 540, doi. 10.24953/turkjped.2018.05.011

By:

Çelik, Muhittin;
Özgün, Nezir;
Akdeniz, Osman;
Fidan, Mücahit;
Tüzün, Heybet;
İpek, Mehmet Şah;
Emecan, Merve;
Eminoğlu, Fatma Tuba

Publication type:

Article

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.

Published in:

Medicina (1010660X), 2023, v. 59, n. 5, p. 856, doi. 10.3390/medicina59050856

By:

Rosca, Ioana;
Turenschi, Alina;
Nicolescu, Alin;
Constantin, Andreea Teodora;
Canciu, Adina Maria;
Dica, Alice Denisa;
Bratila, Elvira;
Coroleuca, Ciprian Andrei;
Nastase, Leonard

Publication type:

Article

The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa.

Published in:

BMC Pediatrics, 2002, v. 2, p. 7, doi. 10.1186/1471-2431-2-7

By:

Henderson, Howard;
Leisegang, Felicity;
Brown, Ruth;
Eley, Brian

Publication type:

Article

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report.

Published in:

2024

By:

Lin, Jiansheng;
Wu, Junfeng;
Gong, Lan;
Li, Xiaoqing;
Wang, Gaoxiong

Publication type:

Case Study

Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.

Published in:

Cell Biochemistry & Biophysics, 2021, v. 79, n. 2, p. 201, doi. 10.1007/s12013-020-00960-z

By:

Kumar, S. Udhaya;
Sankar, Srivarshini;
Kumar, D. Thirumal;
Younes, Salma;
Younes, Nadin;
Siva, R.;
Doss, C. George Priya;
Zayed, Hatem

Publication type:

Article

Simple and sensitive galactose monitoring based on capillary SERS sensor.

Published in:

Analytical & Bioanalytical Chemistry, 2024, v. 416, n. 16, p. 3811, doi. 10.1007/s00216-024-05322-9

By:

Heo, Eun Hae;
Chang, Hyejin

Publication type:

Article

Skeletal health in adult patients with classic galactosemia.

Published in:

Osteoporosis International, 2013, v. 24, n. 2, p. 501, doi. 10.1007/s00198-012-1983-0

By:

Batey, L.;
Welt, C.;
Rohr, F.;
Wessel, A.;
Anastasoaie, V.;
Feldman, H.;
Guo, C.-y.;
Rubio-Gozalbo, E.;
Berry, G.;
Gordon, C.

Publication type:

Article

Probiotic dairy drink for patients with Galactosemia.

Published in:

Ege Üniversitesi Ziraat Fakültesi Dergisi, 2022, v. 59, n. 1, p. 67, doi. 10.20289/zfdergi.993231

By:

TONGUÇ, İlyas Erdem;
KARAGÖZLÜ, Cem

Publication type:

Article

국내 갈락토스혈증 아동의 식행동 및 영양섭취 실태에 관한 연구.

Published in:

Journal of the Korean Society of Food Culture, 2022, v. 37, n. 4, p. 363, doi. 10.7318/KJFC/2022.37.4.363

By:

서혜지;
정예승;
김유리;
오지은

Publication type:

Article

국내 갈락토스혈증 아동의 식생활 관리에 대한 주 보호자와 임상전문가의 인식 및 지원 요구도 조사.

Published in:

Journal of the Korean Society of Food Culture, 2022, v. 37, n. 2, p. 143, doi. 10.7318/KJFC/2022.37.2.143

By:

임서정;
서혜지;
김유리;
오지은

Publication type:

Article

Galactosemia: Towards Pharmacological Chaperones.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 106, doi. 10.3390/jpm11020106

By:

Banford, Samantha;
McCorvie, Thomas J.;
Pey, Angel L.;
Timson, David J.;
Braun, Ralf

Publication type:

Article

Current and Future Treatments for Classic Galactosemia.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 75, doi. 10.3390/jpm11020075

By:

Delnoy, Britt;
Coelho, Ana I.;
Rubio-Gozalbo, Maria Estela;
Pey, Angel L.

Publication type:

Article

Caregivers' nutrition‐related knowledge, perceptions, practices and barriers regarding the therapeutic diet for classical galactosaemia.

Published in:

Journal of Human Nutrition & Dietetics, 2023, v. 36, n. 4, p. 1179, doi. 10.1111/jhn.13144

By:

Blaauw, Giana F.;
Dolman‐Macleod, Robin C.;
Van Niekerk, Evette

Publication type:

Article

The lactose content of Mini Babybel and suitability for galactosaemia.

Published in:

Journal of Human Nutrition & Dietetics, 2011, v. 24, n. 6, p. 620, doi. 10.1111/j.1365-277X.2011.01214.x

By:

Portnoi, P. A.;
MacDonald, A.

Publication type:

Article

Determination of the lactose and galactose content of cheese for use in the galactosaemia diet.

Published in:

Journal of Human Nutrition & Dietetics, 2009, v. 22, n. 5, p. 400, doi. 10.1111/j.1365-277X.2009.00948.x

By:

Portnoi, P. A.;
MacDonald, A.

Publication type:

Article

Dietary calcium in galactosaemia.

Published in:

Journal of Human Nutrition & Dietetics, 2002, v. 15, n. 1, p. 39, doi. 10.1046/j.1365-277X.2002.00330.x

By:

Rutherford, P. J;
Davidson, D. C;
Matthai, S. M

Publication type:

Article

Pathogenesis and Causes of Premature Ovarian Failure: An Update.

Published in:

International Journal of Fertility & Sterility, 2011, v. 5, n. 2, p. 54

By:

Ebrahimi, Mahbod;
Asbagh, Firoozeh Akbari

Publication type:

Article

DIAGNÓSTICO DA GALACTOSEMIA CLÁSSICA.

Published in:

Revista da Faculdade de Ciências da Saúde, 2008, v. 5, p. 24

By:

Silva, Ana;
Cardoso, Inês Lopes

Publication type:

Article

Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population.

Published in:

Biochemical Genetics, 2012, v. 50, n. 11/12, p. 871, doi. 10.1007/s10528-012-9527-z

By:

Singh, Ramandeep;
Thapa, Babu;
Kaur, Gurjit;
Prasad, Rajendra

Publication type:

Article

Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics.

Published in:

Journal of Genetic Counseling, 2011, v. 20, n. 2, p. 192, doi. 10.1007/s10897-010-9337-6

By:

O'Shea, Rosie;
Murphy, Anne;
Treacy, Eileen;
Lynch, Sally;
Thirlaway, Kathryn;
Lambert, Debby

Publication type:

Article

The Clinical Significance of DG Heterozygosity: Literature Review and Meta-Analysis.

Published in:

Journal of Genetic Counseling, 2002, v. 11, n. 6, p. 494

By:

Creswick, H.;
Barnes, M.;
Lawson, L.;
Proud, V.

Publication type:

Article

Recent and anticipated novel drug approvals for 2024.

Published in:

American Journal of Health-System Pharmacy, 2024, v. 81, n. 10, p. 385, doi. 10.1093/ajhp/zxae046

By:

Rim, Matthew H;
Karas, Brittany L;
Barada, Farah;
Levitsky, Andrew M

Publication type:

Article

TIMELY TEST RESULTS MIGHT HAVE SAVED NEWBORN.

Published in:: Clinician Reviews, 2007, v. 17, n. 5, p. 61
Publication type:: Article

Patients with IgA nephropathy have increased serum galactose-deficient IgA1 levels.

Published in:

Indian Journal of Nephrology, 2007, v. 17, n. 2, p. 90

By:

Z., Moldoveanu;
R. J., Wyatt;
J. Y., Lee

Publication type:

Article

Quantitative ultramicrotest for newborn screening of galactosemia in Cuba.

Published in:

Journal of Perinatal Medicine, 2011, v. 39, n. 1, p. 77, doi. 10.1515/JPM.2010.135

By:

Frómeta, Amarilys;
González Reyes, Ernesto Carlos;
Castells, Elisa;
Tejeda, Yileidis;
Almenares, Pedro;
Pérez, Pedro L.

Publication type:

Article

Discovery of novel inhibitors of human galactokinase by virtual screening.

Published in:

Journal of Computer-Aided Molecular Design, 2019, v. 33, n. 4, p. 405, doi. 10.1007/s10822-019-00190-3

By:

Hu, Xin;
Zhang, Ya-Qin;
Lee, Olivia W.;
Liu, Li;
Tang, Manshu;
Lai, Kent;
Boxer, Matthew B.;
Hall, Matthew D.;
Shen, Min

Publication type:

Article

Fractional Isolation and Study of the Structure of Galactomannan from Sophora (Styphnolobium japonicum) Seeds.

Published in:

Applied Biochemistry & Microbiology, 2004, v. 40, n. 5, p. 517, doi. 10.1023/B:ABIM.0000040677.67578.9b

By:

Smirnova, N. I.;
Mestechkina, N. M.;
Sherbukhin, V. D.

Publication type:

Article

Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002

By:

Cantley, Nathan W. P.;
Barski, Robert;
Kemp, Helena;
Hogg, Sarah L.;
Wu, Hoi Yee Teresa;
Bowron, Ann;
Collingwood, Catherine;
Cundick, Jennifer;
Hart, Claire;
Shakespeare, Lynette;
Preece, Mary Anne;
Aitkenhead, Helen;
Smith, Sarah;
Carling, Rachel S.;
Moat, Stuart J.

Publication type:

Article

Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 57, doi. 10.3390/ijns9040057

By:

Iskrov, Georgi;
Angelova, Vyara;
Bochev, Boyan;
Valchinova, Vaska;
Gencheva, Teodora;
Dzhuleva, Desislava;
Dichev, Julian;
Nedkova, Tanya;
Palkova, Mariya;
Tyutyukova, Anelia;
Hristova, Maria;
Hristova-Atanasova, Eleonora;
Stefanov, Rumen

Publication type:

Article

Secondary Reporting of G6PD Deficiency on Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 18, doi. 10.3390/ijns9020018

By:

Hoang, Stephanie C.;
Blumenschein, Pamela;
Lilley, Margaret;
Olshaski, Larissa;
Bruce, Aisha;
Wright, Nicola A. M.;
Ridsdale, Ross;
Christian, Susan

Publication type:

Article