Found: 210
Select item for more details and to access through your institution.
Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
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:
- 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:
- 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:
- Publication type:
- Article
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1355962
- By:
- Publication type:
- Article
Selenium- and/or Zinc-Enriched Egg Diet Improves Oxidative Damage and Regulates Gut Microbiota in D-Gal-Induced Aging Mice.
- Published in:
- Nutrients, 2024, v. 16, n. 4, p. 512, doi. 10.3390/nu16040512
- By:
- Publication type:
- Article
Odimet ® : A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic.
- Published in:
- Nutrients, 2024, v. 16, n. 3, p. 423, doi. 10.3390/nu16030423
- By:
- Publication type:
- Article
Detection of Somatic Variant in PIK3R2 Gene in a Patient Followed with Galactosemia.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 52
- By:
- Publication type:
- Article
Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia – A Case Report.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Classical Hereditary galactosemia: findings in patients and animal models.
- Published in:
- Metabolic Brain Disease, 2024, v. 39, n. 1, p. 239, doi. 10.1007/s11011-023-01281-9
- By:
- 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:
- 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:
- 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:
- Publication type:
- Article
Exercise and Caloric Restriction Exert Different Benefits on Skeletal Muscle Metabolism in Aging Condition.
- Published in:
- Nutrients, 2023, v. 15, n. 23, p. 5004, doi. 10.3390/nu15235004
- By:
- Publication type:
- Article
Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time.
- Published in:
- Journal of Patient-Reported Outcomes, 2023, v. 7, n. 1, p. 1, doi. 10.1186/s41687-023-00635-2
- By:
- Publication type:
- Article
Hypoglycemia in Children: Major Endocrine-Metabolic Causes and Novel Therapeutic Perspectives.
- Published in:
- Nutrients, 2023, v. 15, n. 16, p. 3544, doi. 10.3390/nu15163544
- By:
- 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:
- Publication type:
- Article
An uncommon cause of hypophosphatemic rickets: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2613, doi. 10.1007/s00467-023-05952-8
- By:
- Publication type:
- Article
A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
- Published in:
- Clinical Pediatrics, 2023, v. 62, n. 6, p. 537, doi. 10.1177/00099228221136120
- By:
- 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:
- 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:
- Publication type:
- Article
Gas Chromatography with Flame-Ionization Detection-Based Analysis of Sugar Contents in Korean Agricultural Products for Patients with Galactosemia.
- Published in:
- Foods, 2023, v. 12, n. 5, p. 1104, doi. 10.3390/foods12051104
- By:
- 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:
- 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:
- Publication type:
- Article
Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.
- Published in:
- Nutrients, 2023, v. 15, n. 3, p. 594, doi. 10.3390/nu15030594
- By:
- Publication type:
- Article
Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment.
- Published in:
- Nutrients, 2023, v. 15, n. 2, p. 407, doi. 10.3390/nu15020407
- By:
- Publication type:
- Article
Aerobic Treadmill Exercise Upregulates Epidermal Growth Factor Levels and Improves Learning and Memory in d -galactose-Induced Aging in a Mouse Model.
- Published in:
- American Journal of Alzheimer's Disease & Other Dementias, 2023, v. 38, p. 1, doi. 10.1177/15333175231211082
- By:
- Publication type:
- Article
Galactose-1-Phosphate and Galactitol in Red Blood Cells of Galactosemia Patients.
- Published in:
- Egyptian Journal of Hospital Medicine, 2023, v. 90, n. 1, p. 1400, doi. 10.21608/ejhm.2023.282161
- By:
- Publication type:
- Article
The Importance of Neonatal Screening for Galactosemia.
- Published in:
- Nutrients, 2023, v. 15, n. 1, p. 10, doi. 10.3390/nu15010010
- By:
- Publication type:
- Article
Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia.
- Published in:
- American Journal of Speech-Language Pathology, 2022, v. 31, n. 6, p. 2527, doi. 10.1044/2022_AJSLP-22-00107
- By:
- Publication type:
- Article
Recurrent Encephalopathy with Metabolic Acidosis and Hypoglycemia: Do not Forget Fructose Metabolism.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Determination of the lactose and galactose content of common foods: Relevance to galactosemia.
- Published in:
- Food Science & Nutrition, 2022, v. 10, n. 11, p. 3789, doi. 10.1002/fsn3.2976
- By:
- Publication type:
- Article
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Harnessing the Power of Purple Sweet Potato Color and Myo -Inositol to Treat Classic Galactosemia.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8654, doi. 10.3390/ijms23158654
- By:
- 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:
- Publication type:
- Article
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:
- Publication type:
- Article
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:
- 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:
- 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:
- Publication type:
- Article
Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.
- Published in:
- American Journal of Speech-Language Pathology, 2021, v. 30, p. 2616, doi. 10.1044/2021_AJSLP-21-00098
- By:
- Publication type:
- Article
Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, p. S37, doi. 10.1002/mdc3.13295
- By:
- Publication type:
- Article
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, p. S40, doi. 10.1002/mdc3.13304
- By:
- Publication type:
- Article
The genetic basis of classical galactosaemia in Polish patients.
- Published in:
- 2021
- By:
- Publication type:
- Letter
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:
- Publication type:
- Article
The genetic basis of classical galactosaemia in Polish patients.
- Published in:
- 2021
- By:
- 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:
- 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:
- 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:
- Publication type:
- Article
Eye involvement in inherited metabolic disorders.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, p. 1, doi. 10.1177/2515841420979109
- By:
- Publication type:
- Article