Works matching Galactosemia and genetics

Results: 38

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070968

By:

Succoio, Mariangela;
Sacchettini, Rosa;
Rossi, Alessandro;
Parenti, Giancarlo;
Ruoppolo, Margherita

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

Galaktozemi tanılı olgularımızın klinik ve genetik değerlendirilmesi.

Published in:

Türk Pediatri Arşivi, 2016, v. 51, n. 4, p. 204, doi. 10.5152/TurkPediatriArs.2016.3759

By:

Atik, Sezen Ugan;
Gürsoy, Semra;
Koçkar, Tuba;
Önal, Hasan;
Adal, Servet Erdal

Publication type:

Article

Genetic basis of galactosemia.

Published in:

Human Mutation, 1992, v. 1, n. 3, p. 190, doi. 10.1002/humu.1380010303

By:

Reichardt, Juergen K. V.

Publication type:

Article

The genetic basis of classical galactosaemia in Polish patients.

Published in:

2021

By:

Jezela-Stanek, Aleksandra;
Bauer, Anna;
Wertheim-Tysarowska, Katarzyna;
Bal, Jerzy;
Rygiel, Agnieszka Magdalena;
Sykut-Cegielska, Jolanta

Publication type:

Letter

The genetic basis of classical galactosaemia in Polish patients.

Published in:

2021

By:

Jezela-Stanek, Aleksandra;
Bauer, Anna;
Wertheim-Tysarowska, Katarzyna;
Bal, Jerzy;
Rygiel, Agnieszka Magdalena;
Sykut-Cegielska, Jolanta

Publication type:

Letter

Iskustva s galaktozemijom u Hrvatskoj.

Published in:

Lijecnicki Vjesnik, 2023, v. 145, n. 1/2, p. 1, doi. 10.26800/LV-145-1-2-1

By:

Šmaguc, Ana;
Ramadža, Danijela Petković;
Sarnavka, Vladimir;
Krželj, Vjekoslav;
Lozić, Bernarda;
Pušeljić, Silvija;
Rahelić, Valentina;
Mesarić, Nikola;
Grubić, Marina;
Bogdanić, Ana;
Uroić, Anita Špehar;
Žigman, Tamara;
Grizelj, Ruža;
Vuković, Jurica;
Mardešić, Duško;
Szatmari, Ildiko;
Rivera, Isabel;
Fumić, Ksenija;
Barić, Ivo

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

Determination of The GALT Gene in Galactosemic Cataract Patients in Azerbaijan.

Published in:

Journal of Advanced Zoology, 2023, v. 44, p. 1538, doi. 10.17762/jaz.v44is-5.1344

By:

Huseynova, L. S.;
Ansarova, A. H.

Publication type:

Article

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17388, doi. 10.3390/ijms242417388

By:

Forte, Giovanna;
Buonadonna, Antonia Lucia;
Pantaleo, Antonino;
Fasano, Candida;
Capodiferro, Donatella;
Grossi, Valentina;
Sanese, Paola;
Cariola, Filomena;
De Marco, Katia;
Lepore Signorile, Martina;
Manghisi, Andrea;
Guglielmi, Anna Filomena;
Simonetti, Simonetta;
Laforgia, Nicola;
Disciglio, Vittoria;
Simone, Cristiano

Publication type:

Article

Sugar recognition by human galactokinase.

Published in:

BMC Biochemistry, 2003, v. 4, p. 16, doi. 10.1186/1471-2091-4-16

By:

Timson, David J.;
Reece, Richard J.

Publication type:

Article

Diet in dermatology: Revisited.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2010, v. 76, n. 2, p. 103, doi. 10.4103/0378-6323.60540

By:

Kaimal, Sowmya;
Thappa, Devinder Mohan

Publication type:

Article

Early markers of vulnerable language skill development in galactosaemia.

Published in:

2014

By:

Lewis, Fiona M.;
Coman, David J.;
Syrmis, Maryanne

Publication type:

Case Study

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

OC24.03: Ovarian reserve parameters as indications for ovarian tissue cryopreservation in children suffering from non‐iatrogenic premature ovarian failure.

Published in:

Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 62, doi. 10.1002/uog.20590

By:

Zajicek, M.;
Shai, D.;
Raanani, H.;
Gruber, N.;
Karplus, G.;
Kassif, E.;
Weisz, B.;
Meirow, D.

Publication type:

Article

Aetiology of premature ovarian failure.

Published in:

Menopause International, 2009, v. 15, n. 2, p. 72, doi. 10.1258/mi.2009.009020

By:

Vujovic, Svetlana

Publication type:

Article

Inhibitor of apoptosis proteins and ovarian dysfunction in galactosemic rats.

Published in:

Cell & Tissue Research, 2003, v. 311, n. 3, p. 417, doi. 10.1007/s00441-002-0689-6

By:

Lai, K. W.;
Cheng, L. Y. L.;
Cheung, A. L. M.;
O, W. S.

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

Expression of Galactose-1-Phosphate Uridyltransferase in the Anterior Pituitary of Rat during the Estrous Cycle.

Published in:

Neuroendocrinology, 1996, v. 64, n. 1, p. 42, doi. 10.1159/000127096

By:

Daude, Nathalie;
Lestage, Jacques;
Reichardt, Jürgen K.V.;
Petry, Klaus G.

Publication type:

Article

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 68, doi. 10.3390/ijns7040068

By:

Kikuchi, Atsuo;
Wada, Yoichi;
Ohura, Toshihiro;
Kure, Shigeo

Publication type:

Article

The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.

Published in:

IUBMB Life, 2011, v. 63, n. 9, p. 694, doi. 10.1002/iub.511

By:

McCorvie, Thomas J.;
Timson, David J.

Publication type:

Article

The structural and molecular biology of type III galactosemia.

Published in:

IUBMB Life, 2006, v. 58, n. 2, p. 83, doi. 10.1080/15216540600644846

By:

Timson, David J.

Publication type:

Article

Modifiers of ovarian function in girls and women with classic galactosemia.

Published in:

2013

By:

Spencer, Jessica B;
Badik, Jennifer R;
Ryan, Emily L;
Gleason, Tyler J;
Broadaway, K Alaine;
Epstein, Michael P;
Fridovich-Keil, Judith L

Publication type:

journal 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

Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.

Published in:

Human Reproduction, 2023, v. 38, n. 6, p. 1224, doi. 10.1093/humrep/dead066

By:

Silvén, H;
Savukoski, S M;
Pesonen, P;
Pukkala, E;
Ojaniemi, M;
Gissler, M;
Suvanto, E;
Niinimäki, M

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

Genetic abnormalities in Turkish women with premature ovarian failure

Published in:

2010

By:

Ceylaner, Gulay;
Altinkaya, Sunduz Ozlem;
Mollamahmutoglu, Leyla;
Ceylaner, Serdar

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

Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.

Published in:

PEDS: Protein Engineering, Design & Selection, 2010, v. 23, n. 2, p. 103, doi. 10.1093/protein/gzp076

By:

Facchiano, A.;
Marabotti, A.

Publication type:

Article

Galactosemia and Amenorrhea in the Adolescent.

Published in:

Annals of the New York Academy of Sciences, 2008, v. 1135, p. 112, doi. 10.1196/annals.1429.038

By:

Berry, Gerard T.

Publication type:

Article

Pregnancy and galactosaemia.

Published in:

Journal of Obstetrics & Gynaecology, 2006, v. 26, n. 8, p. 812, doi. 10.1080/01443610600987001

By:

Noelmans, L.;
Jacquemyn, Y.;
De Naeyer, S.;
Eyskens, F.

Publication type:

Article

Reagent-Free Colorimetric Assay for Galactose Using Agarose Gel Entrapping Nanoceria and Galactose Oxidase.

Published in:

Nanomaterials (2079-4991), 2020, v. 10, n. 5, p. 895, doi. 10.3390/nano10050895

By:

Nguyen, Phuong Thy;
Ahn, Hee Tae;
Kim, Moon Il

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

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

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

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

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Published in:

2018

By:

Haskovic, Minela;
Derks, Britt;
van der Ploeg, Liesbeth;
Trommelen, Jorn;
Nyakayiru, Jean;
van Loon, Luc J. C.;
Mackinnon, Sabrina;
Yue, Wyatt W.;
Peake, Roy W. A.;
Zha, Li;
Demirbas, Didem;
Qi, Wanshu;
Huang, Xiaoping;
Berry, Gerard T.;
Achten, Jelle;
Bierau, Jörgen;
Rubio-Gozalbo, M. Estela;
Coelho, Ana I.

Publication type:

journal 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