Works matching Galactosemia and genetics
Results: 38
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
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- Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070968
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- Publication type:
- Article
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 549, doi. 10.1038/sj.ejhg.5200327
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- Article
Galaktozemi tanılı olgularımızın klinik ve genetik değerlendirilmesi.
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- Türk Pediatri Arşivi, 2016, v. 51, n. 4, p. 204, doi. 10.5152/TurkPediatriArs.2016.3759
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- Publication type:
- Article
Genetic basis of galactosemia.
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- Human Mutation, 1992, v. 1, n. 3, p. 190, doi. 10.1002/humu.1380010303
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- Publication type:
- Article
The genetic basis of classical galactosaemia in Polish patients.
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- 2021
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- Publication type:
- Letter
The genetic basis of classical galactosaemia in Polish patients.
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- 2021
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- Publication type:
- Letter
Iskustva s galaktozemijom u Hrvatskoj.
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- Lijecnicki Vjesnik, 2023, v. 145, n. 1/2, p. 1, doi. 10.26800/LV-145-1-2-1
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- Publication type:
- Article
Low prevalence of classical galactosemia in Korean population.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
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- Article
Determination of The GALT Gene in Galactosemic Cataract Patients in Azerbaijan.
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- Journal of Advanced Zoology, 2023, v. 44, p. 1538, doi. 10.17762/jaz.v44is-5.1344
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- Publication type:
- Article
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17388, doi. 10.3390/ijms242417388
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- Publication type:
- Article
Sugar recognition by human galactokinase.
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- BMC Biochemistry, 2003, v. 4, p. 16, doi. 10.1186/1471-2091-4-16
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- Publication type:
- Article
Diet in dermatology: Revisited.
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- Indian Journal of Dermatology, Venereology & Leprology, 2010, v. 76, n. 2, p. 103, doi. 10.4103/0378-6323.60540
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- Publication type:
- Article
Early markers of vulnerable language skill development in galactosaemia.
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- 2014
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- Publication type:
- Case Study
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
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- FEBS Journal, 2005, v. 272, n. 23, p. 6170, doi. 10.1111/j.1742-4658.2005.05017.x
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- Publication type:
- Article
OC24.03: Ovarian reserve parameters as indications for ovarian tissue cryopreservation in children suffering from non‐iatrogenic premature ovarian failure.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 62, doi. 10.1002/uog.20590
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- Publication type:
- Article
Aetiology of premature ovarian failure.
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- Menopause International, 2009, v. 15, n. 2, p. 72, doi. 10.1258/mi.2009.009020
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- Publication type:
- Article
Inhibitor of apoptosis proteins and ovarian dysfunction in galactosemic rats.
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- Cell & Tissue Research, 2003, v. 311, n. 3, p. 417, doi. 10.1007/s00441-002-0689-6
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- Publication type:
- Article
국내 갈락토스혈증 아동의 식생활 관리에 대한 주 보호자와 임상전문가의 인식 및 지원 요구도 조사.
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- Journal of the Korean Society of Food Culture, 2022, v. 37, n. 2, p. 143, doi. 10.7318/KJFC/2022.37.2.143
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- Publication type:
- Article
Expression of Galactose-1-Phosphate Uridyltransferase in the Anterior Pituitary of Rat during the Estrous Cycle.
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- Neuroendocrinology, 1996, v. 64, n. 1, p. 42, doi. 10.1159/000127096
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- Publication type:
- Article
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 68, doi. 10.3390/ijns7040068
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- Publication type:
- Article
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
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- IUBMB Life, 2011, v. 63, n. 9, p. 694, doi. 10.1002/iub.511
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- Publication type:
- Article
The structural and molecular biology of type III galactosemia.
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- IUBMB Life, 2006, v. 58, n. 2, p. 83, doi. 10.1080/15216540600644846
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- Publication type:
- Article
Modifiers of ovarian function in girls and women with classic galactosemia.
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- 2013
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- Publication type:
- journal article
The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa.
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- BMC Pediatrics, 2002, v. 2, p. 7, doi. 10.1186/1471-2431-2-7
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- Publication type:
- Article
Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.
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- Human Reproduction, 2023, v. 38, n. 6, p. 1224, doi. 10.1093/humrep/dead066
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- Publication type:
- Article
Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population.
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- Biochemical Genetics, 2012, v. 50, n. 11/12, p. 871, doi. 10.1007/s10528-012-9527-z
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- Publication type:
- Article
Genetic abnormalities in Turkish women with premature ovarian failure
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- 2010
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- Publication type:
- journal article
Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.
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- Developmental Neurorehabilitation, 2014, v. 17, n. 5, p. 291, doi. 10.3109/17518423.2012.753479
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- Publication type:
- Article
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
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- PEDS: Protein Engineering, Design & Selection, 2010, v. 23, n. 2, p. 103, doi. 10.1093/protein/gzp076
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- Publication type:
- Article
Galactosemia and Amenorrhea in the Adolescent.
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- Annals of the New York Academy of Sciences, 2008, v. 1135, p. 112, doi. 10.1196/annals.1429.038
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- Publication type:
- Article
Pregnancy and galactosaemia.
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- Journal of Obstetrics & Gynaecology, 2006, v. 26, n. 8, p. 812, doi. 10.1080/01443610600987001
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- Publication type:
- Article
Reagent-Free Colorimetric Assay for Galactose Using Agarose Gel Entrapping Nanoceria and Galactose Oxidase.
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- Nanomaterials (2079-4991), 2020, v. 10, n. 5, p. 895, doi. 10.3390/nano10050895
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- Article
Literature reviews.
- Published in:
- Clinical Pediatrics, 1995, v. 34, n. 10, p. 567
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- Publication type:
- Article
Simple and sensitive galactose monitoring based on capillary SERS sensor.
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- Analytical & Bioanalytical Chemistry, 2024, v. 416, n. 16, p. 3811, doi. 10.1007/s00216-024-05322-9
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- Publication type:
- Article
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 484, doi. 10.1002/mgg3.94
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- Publication type:
- Article
Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics.
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- Journal of Genetic Counseling, 2011, v. 20, n. 2, p. 192, doi. 10.1007/s10897-010-9337-6
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- Publication type:
- Article
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
- Published in:
- 2018
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- 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
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- Publication type:
- Article