Works about GALACTOSEMIA

Results: 228

Rethinking Newborn Screening: A Case of GALM Deficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 25, doi. 10.3390/ijns11020025

By:

van Konijnenburg, Eva M. M. Hoytema;
Radenkovic, Silvia;
Koop, Klaas;
Prinsen, Hubertus C. M. T.;
de Sain-van der Velden, Monique

Publication type:

Article

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 2030, doi. 10.3390/jcm12052030

By:

Lotz-Havla, Amelie S.;
Christmann, Tara;
Parhofer, Klaus G.;
Maier, Esther M.;
Havla, Joachim

Publication type:

Article

Upregulations of Clcn3 and P-Gp Provoked by Lens Osmotic Expansion in Rat Galactosemic Cataract.

Published in:

Journal of Diabetes Research, 2017, p. 1, doi. 10.1155/2017/3472735

By:

Ji, Lixia;
Cheng, Lixia;
Yang, Zhihong

Publication type:

Article

Receptor-mediated attenuation of insulin-like growth factor-1 activity by galactose-1-phosphate in neonate skin fibroblast cultures: Galactosemia pathogenesis.

Published in:

Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 4, p. 499, doi. 10.17219/acem/111807

By:

Al-Essa, Mazen;
Dhaunsi, Gursev

Publication type:

Article

The need for additional care in patients with classical galactosaemia.

Published in:

Disability & Rehabilitation, 2019, v. 41, n. 22, p. 2663, doi. 10.1080/09638288.2018.1475514

By:

Welling, Lindsey;
Meester-Delver, Anke;
Derks, Terry G.;
Janssen, Mirian C. H.;
Hollak, Carla E. M.;
de Vries, Maaike;
Bosch, Annet M.

Publication type:

Article

A discordant of blood glucose analysed by Glucometer and the Central lab method in an infant with Galactosemia.

Published in:

2013

By:

Siripunthana, Sukumarn;
Sahakitrungruang, Taninee;
Washarasindhu, Suttipong;
Suphapeetiporn, Kanya;
Supornsilchai, Vichit

Publication type:

Abstract

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

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Published in:

2020

By:

Welsink-Karssies, Mendy M.;
Oostrom, Kim J.;
Hermans, Merel E.;
Hollak, Carla E. M.;
Janssen, Mirian C. H.;
Langendonk, Janneke G.;
Oussoren, Esmee;
Rubio Gozalbo, M. Estela;
de Vries, Maaike;
Geurtsen, Gert J.;
Bosch, Annet M.

Publication type:

journal article

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Published in:

2020

By:

Welsink-Karssies, Mendy M.;
Oostrom, Kim J.;
Hermans, Merel E.;
Hollak, Carla E. M.;
Janssen, Mirian C. H.;
Langendonk, Janneke G.;
Oussoren, Esmee;
Gozalbo, M. Estela Rubio;
de Vries, Maaike;
Geurtsen, Gert J.;
Bosch, Annet M.;
Rubio Gozalbo, M Estela

Publication type:

journal article

Cognitive functioning in patients with classical galactosemia: a systematic review.

Published in:

2019

By:

Hermans, Merel E.;
Welsink-Karssies, Mendy M.;
Bosch, Annet M.;
Oostrom, Kim J.;
Geurtsen, Gert J.

Publication type:

journal article

Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.

Published in:

Developmental Neurorehabilitation, 2014, v. 17, n. 5, p. 291, doi. 10.3109/17518423.2012.753479

By:

Lewis, Fiona M.;
Coman, David J.;
Kilcoyne, Sarah;
Murdoch, Bruce E.;
Syrmis, Maryanne

Publication type:

Article

A 14-Year Old Girl with Reversible Hypoglycemic Episodes: The Role of ASVS.

Published in:

2015

By:

SMITH, ALISHA;
THORNTON, PAUL S.;
GALLIANI, CARLOS A.;
MILLER, JAMES P.;
DYKES, JENNIFER;
LEUNG-PINEDA, VAN

Publication type:

Case Study

Galactosemia Presenting as Recurrent Sepsis.

Published in:

Journal of Tropical Pediatrics, 2011, v. 57, n. 6, p. 487, doi. 10.1093/tropej/fmr018

By:

Rathi, Narendra;
Rathi, Akanksha

Publication type:

Article

International Survey on Phenylketonuria Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018

By:

Trampuž, Domen;
Schielen, Peter C. J. I.;
Zetterström, Rolf H.;
Scarpa, Maurizio;
Feillet, François;
Kožich, Viktor;
Tangeraas, Trine;
Drole Torkar, Ana;
Mlinarič, Matej;
Perko, Daša;
Remec, Žiga Iztok;
Lampret, Barbka Repič;
Battelino, Tadej;
van Spronsen, Francjan J.;
Bonham, James R.;
Grošelj, Urh

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

Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.

Published in:

Journal of Applied Laboratory Medicine, 2018, p. 222, doi. 10.1373/jalm.2017.025536

By:

Tatiana Yuzyuk;
Wilson, Andrew R.;
Rong Mao;
Pasquali, Marzia

Publication type:

Article

Overview of Infant and Pediatric Formulas.

Published in:

Nutrition in Clinical Practice, 2009, v. 24, n. 3, p. 356, doi. 10.1177/0884533609335309

By:

Joeckel, Rebecca J.;
Phillips, Sharon K.

Publication type:

Article

Rutenyum Mediyatör Kompleksi Temelli Galaktoz Biyosensörü Geliştirilmesi.

Published in:

Journal of the Institute of Science & Technology / Iğdır Üniversitesi Fen Bilimleri Enstitüsü Dergisi, 2023, v. 13, n. 4, p. 2769, doi. 10.21597/jist.1321228

By:

CANBAY, Erhan;
KUNDAKÇI, Sevval;
YILDIZ, Ezginur;
ÇELİK CANBAY, Zeynep;
DOĞAN, Serçin;
AKYILMAZ, Erol

Publication type:

Article

Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells.

Published in:

Cells (2073-4409), 2020, v. 9, n. 3, p. 607, doi. 10.3390/cells9030607

By:

Janes, Verena;
Grabany, Simona;
Delbrouck, Julien;
Vincent, Stephane P.;
Gottschalk, Johannes;
Elling, Lothar;
Hanisch, Franz-Georg

Publication type:

Article

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 10, p. 675, doi. 10.1038/jhg.2013.76

By:

Özgül, Rıza Köksal;
Güzel-Ozantürk, Ayşegül;
Dündar, Halil;
Yücel-Yılmaz, Didem;
Coşkun, Turgay;
Sivri, Serap;
Aydoǧdu, Sultan;
Tokatlı, Ayşegül;
Dursun, Ali

Publication type:

Article

Low prevalence of classical galactosemia in Korean population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152

By:

Lee, Beom Hee;
Cheon, Chong Kun;
Kim, Jae-Min;
Kang, Minji;
Kim, Joo Hyun;
Yang, Song Hyun;
Kim, Gu-Hwan;
Choi, Jin-ho;
Yoo, Han-Wook

Publication type:

Article

Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia – A Case Report.

Published in:

2024

By:

Karafyllis, Ioannis;
Nuoffer, Jean-Marc;
Michelis, Joan-Philipp;
Chilver-Stainer, Lara

Publication type:

Case Study

Screening for galactosemia: is there a place for it?

Published in:

International Journal of General Medicine, 2019, v. 12, p. 193, doi. 10.2147/IJGM.S180706

By:

Kotb, Magd A;
Mansour, Lobna;
Shamma, Radwa A

Publication type:

Article

Pseudohyperglycemia due to glucometer interference in galactosemia.

Published in:

Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 5, p. e107, doi. 10.1515/cclm-2023-1304

By:

Decru, Bram;
Blanckaert, Hilde;
Naulaers, Gunnar;
Vanhole, Christine;
Rymen, Daisy;
Witters, Peter;
Van Wambeke, Inge;
Gillard, Pieter;
Vermeersch, Pieter

Publication type:

Article

Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 206, doi. 10.1111/cge.13030

By:

Viggiano, E.;
Marabotti, A.;
Politano, L.;
Burlina, A.

Publication type:

Article

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1172, doi. 10.1038/ejhg.2014.12

By:

Tang, Manshu;
Siddiqi, Anwer;
Witt, Benjamin;
Yuzyuk, Tatiana;
Johnson, Britt;
Fraser, Nisa;
Chen, Wyman;
Rascon, Rafael;
Yin, Xue;
Goli, Harish;
Bodamer, Olaf A;
Lai, Kent

Publication type:

Article

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 757, doi. 10.1038/sj.ejhg.5200368

By:

Hirokawa, Hidetetsu;
Okano, Yoshiyuki;
Asada, Minoru;
Fujimoto, Akie;
Suyama, Itsujin;
Isshiki, Gen

Publication type:

Article

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 5, p. 549, doi. 10.1038/sj.ejhg.5200327

By:

Murphy, Miriam;
McHugh, Brian;
Tighe, Orna;
Mayne, Philip;
O'Neill, Charles;
Naughten, Eileen;
Croke, David T

Publication type:

Article

ESTADO ACTUAL DE LA PESQUISA NEUROMETABOLICA NEONATAL.

Published in:

Medicina (Buenos Aires), 2009, v. 69, n. 1, p. 36

By:

Alfonso, Israel;
Charria, Gustavo;
Papazian, Oscar

Publication type:

Article

Functional and structural alterations of the glomerular permeability barrier in experimental galactosemia.

Published in:

Kidney International, 1991, v. 39, n. 6, p. 1104, doi. 10.1111/1523-1755.ep14905152

By:

Daniels, Barbara S.;
Hostetter, Thomas H.;
Kren, Stefan M.

Publication type:

Article

Hyperglycemia and development of glomerular pathology: Diabetes compared with galactosemia.

Published in:

Kidney International, 1989, v. 36, n. 1, p. 41, doi. 10.1038/ki.1989.158

By:

Engerman, Ronald L.;
Kern, Timothy S.

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

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

Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.

Published in:

FEBS Journal, 2009, v. 276, n. 7, p. 1952, doi. 10.1111/j.1742-4658.2009.06922.x

By:

You-Lim Bang;
Nguyen, Trang T. T.;
Trinh, Tram T. B.;
Kim, Yun J.;
Junghan Song;
Young-Han Song

Publication type:

Article

Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.

Published in:

FEBS Journal, 2005, v. 272, n. 23, p. 6170, doi. 10.1111/j.1742-4658.2005.05017.x

By:

Timson, David J.

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

The hypergonadotropic hypogonadism conundrum of classic galactosemia.

Published in:

Human Reproduction Update, 2023, v. 29, n. 2, p. 246, doi. 10.1093/humupd/dmac041

By:

Derks, Britt;
Rivera-Cruz, Greysha;
Hagen-Lillevik, Synneva;
Vos, E Naomi;
Demirbas, Didem;
Lai, Kent;
Treacy, Eileen P;
Levy, Harvey L;
Wilkins-Haug, Louise E;
Rubio-Gozalbo, M Estela;
Berry, Gerard T

Publication type:

Article

Gonadal function in male and female patients with classic galactosemia.

Published in:

Human Reproduction Update, 2010, v. 16, n. 2, p. 177, doi. 10.1093/humupd/dmp038

By:

Rubio-Gozalbo, M.E.;
Gubbels, C.S.;
Bakker, J.A.;
Menheere, P.P.C.A.;
Wodzig, W.K.W.H.;
Land, J.A.

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

Peripheral Nerve Regeneration in Galactosaemic Rats.

Published in:

Journal of the Peripheral Nervous System, 2003, v. 8, n. 2, p. 128, doi. 10.1046/j.1529-8027.2003.03016_17.x

By:

King, RHM;
Muddle, JR;
Nourallah, M;
Wong, J;
Workman, JM;
Thomas, PK

Publication type:

Article

GALAKTOZEMİ VE SİTUS İNVERSUS TOTALİS BERABERLİĞİ: NADİR BİR OLGU SUNUMU.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2020, v. 83, n. 2, p. 168, doi. 10.26650/IUITFD.2019.0061

By:

DEMİR, İlksen;
BULUT, Fatma Derya;
ORHAN, Zahide;
KILAVUZ, Sebile;
ERDEM, Sevcan;
BALLI, Tuğsan;
KOR, Deniz;
ONENLİ MUNGAN, Neslihan

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

Normalization of lens protein kinase Cγ in galactosemic dogs by a novel aldose reductase inhibitor.

Published in:

Veterinary Ophthalmology, 2004, v. 7, n. 3, p. 163, doi. 10.1111/j.1463-5224.2004.04016.x

By:

Takemoto, Dolores J.;
Harris, Richard;
Brightman, Al;
McGill, John;
Duy Hua;
Davidson, Harriet;
Fenwick, Brad;
Wagner, Lynn M.

Publication type:

Article

Literature reviews.

Published in:

Clinical Pediatrics, 1995, v. 34, n. 10, p. 567

By:

Roth, Karl S.;
Lampe, John B.

Publication type:

Article

Fulminant Hepatitis B and Neonatal Hepatitis with Galactosemia-Like Presentation.

Published in:

Clinical Pediatrics, 1991, v. 30, n. 3, p. 191, doi. 10.1177/000992289103000311

By:

Vajro, Pietro;
Fontanella, Angiola;
Tedesco, Mariangela;
Vecchione, Raffaella;
D'Armiento, Mariarosaria

Publication type:

Article

Galactosemia and Alpha-1- antitrypsin Deficiency.

Published in:

1985

By:

Taylor, Frances;
Rumsby, Gillian;
Whitfield, Anthony;
De Silva, Vasantha;
Hjelm, Magnus

Publication type:

Letter

The Occurrence of Phenylketonuria and Galactosemia Within the Same Family.

Published in:

Clinical Pediatrics, 1985, v. 24, n. 8, p. 456, doi. 10.1177/000992288502400808

By:

Fisch, Robert O.;
Goosens, Kathleen A.;
Tsai, Michael Y.;
Seelig, Steve;
Schwichtenberg, Kerry

Publication type:

Article