Works matching DE "INBORN errors of carbohydrate metabolism"
Results: 241
Psychiatric assessment and therapy in an adolescent with ALG6-CDG: a six-month follow-up case report.
- Published in:
- European Child & Adolescent Psychiatry, 2025, v. 34, n. 2, p. 795, doi. 10.1007/s00787-024-02564-x
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- Publication type:
- Article
Life-threatening haemolysis induced by henna in a Sudanese child with glucose-6-phosphate dehydrogenase deficiency.
- Published in:
- 2017
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- Publication type:
- Case Study
Prevalence of thalassaemia, iron-deficiency anaemia and glucose-6-phosphate dehydrogenase deficiency among Arab migrating nomad children, southern Islamic Republic of Iran.
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- Eastern Mediterranean Health Journal, 2014, v. 20, n. 11, p. 726
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- Publication type:
- Article
Nedosiran in primary hyperoxaluria type 1: a profile of its use: Nedosiran in primary hyperoxaluria type 1: a profile of its use: N.L. France, Y.Y. Syed.
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- Drugs & Therapy Perspectives, 2025, v. 41, n. 1, p. 19, doi. 10.1007/s40267-024-01127-z
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- Publication type:
- Article
Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.
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- 2021
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- Publication type:
- journal article
Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.
- Published in:
- 2021
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- Publication type:
- journal article
Fructose Malabsorption in Chilean Children Undergoing Fructose Breath Test at a Tertiary Hospital.
- Published in:
- 2021
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- Publication type:
- journal article
Structural Studies of the Intestinal α-Glucosidases, Maltase-glucoamylase and Sucrase-isomaltase.
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- 2018
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- Publication type:
- journal article
Metabolic Impacts of Maltase Deficiencies.
- Published in:
- 2018
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- Publication type:
- journal article
13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency.
- Published in:
- 2018
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- Publication type:
- journal article
Improved Starch Digestion of Sucrase-deficient Shrews Treated With Oral Glucoamylase Enzyme Supplements.
- Published in:
- 2017
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- Publication type:
- journal article
Journal Scan.
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- Asian Journal of Pediatric Nephrology, 2023, v. 6, n. 1, p. 37, doi. 10.4103/ajpn.ajpn_9_23
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- Publication type:
- Article
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
- Published in:
- 2019
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- Publication type:
- journal article
Glucose-6-phosphate dehydrogenase deficiency induced haemolysis in a woman with newly diagnosed diabetes after normalisation of hyperglycaemia.
- Published in:
- Diabetic Medicine, 2017, v. 34, n. 9, p. 1318, doi. 10.1111/dme.13385
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- Publication type:
- Article
ILLUMINATE-C, a Single-Arm, Phase 3 Study of Lumasiran in Patients with Primary Hyperoxaluria Type 1 and CKD3b-5, Including Those on Hemodialysis.
- Published in:
- 2022
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- Publication type:
- Abstract
Impact of splenectomy on circulating microparticles in patients with sickle cell anemia.
- Published in:
- International Journal of Laboratory Hematology, 2024, v. 46, n. 1, p. 141, doi. 10.1111/ijlh.14162
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- Publication type:
- Article
In special coagulation, think horses not zebras: A clotted sample from a patient with congenital disorder of glycosylation.
- Published in:
- 2023
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- Publication type:
- Case Study
Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.
- Published in:
- International Journal of Laboratory Hematology, 2016, v. 38, n. 2, p. e27, doi. 10.1111/ijlh.12455
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- Publication type:
- Article
A multiplex method for detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations.
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- International Journal of Laboratory Hematology, 2015, v. 37, n. 6, p. 739, doi. 10.1111/ijlh.12405
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- Publication type:
- Article
Prevalence and molecular defect characterization of glucose-6-phosphate dehydrogenase deficiency in Brazilian blood donors.
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- International Journal of Laboratory Hematology, 2015, v. 37, n. 5, p. e109, doi. 10.1111/ijlh.12341
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- Publication type:
- Article
Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.
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- International Journal of Laboratory Hematology, 2015, v. 37, n. 3, p. 410, doi. 10.1111/ijlh.12303
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- Publication type:
- Article
Direct detection for G6PD Bangkok and G6PD Bangkok Noi mutations in the families with chronic nonspherocytic hemolytic anemia (CNSHA).
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
A case of glycogen storage disease type II with double aortic arch.
- Published in:
- 2000
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- Publication type:
- journal article
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.
- Published in:
- 1998
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- Publication type:
- journal article
Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain.
- Published in:
- 2018
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- Publication type:
- journal article
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
- Published in:
- 2018
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- Publication type:
- journal article
Evaluation of non-coding variation in GLUT1 deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
- Published in:
- 2016
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- Publication type:
- journal article
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
- Published in:
- 2015
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- Publication type:
- journal article
Glycogenosis type V or McArdle's disease.
- Published in:
- 2003
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- Publication type:
- journal article
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
- Published in:
- 2017
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- Publication type:
- journal article
Danon disease: Rare cause of cardiomyopathy.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 12, p. 1288, doi. 10.33963/v.kp.97064
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- Publication type:
- Article
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
- Published in:
- 2021
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- Publication type:
- journal article
The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.
- Published in:
- 2017
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- Publication type:
- journal article
Incremental value of three-dimensional strain imaging in Danon disease.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2012, v. 13, n. 10, p. 804, doi. 10.1093/ehjci/jes099
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- Publication type:
- Article
Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome.
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- International Journal of Nephrology, 2015, v. 2015, p. 1, doi. 10.1155/2015/634175
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- Publication type:
- Article
Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria.
- Published in:
- 2016
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- Publication type:
- journal article
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
- Published in:
- 2015
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- Publication type:
- journal article
A genetic disease under the multiform mask - infantile-onset of Pompe disease.
- Published in:
- Polish Journal of Pediatrics / Pediatria Polska, 2024, v. 99, n. 3, p. 218, doi. 10.5114/polp.2024.143087
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- Publication type:
- Article
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness.
- Published in:
- 2016
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- Publication type:
- Case Study
Detection of a Novel Mutation in the GAA Gene in an Iranian Child with Glycoqen Storaqe Disease Type II.
- Published in:
- Archives of Iranian Medicine (AIM), 2013, v. 16, n. 2, p. 126
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- Publication type:
- Article
Lactate production in McArdle's disease.
- Published in:
- 1977
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- Publication type:
- journal article
Ketotic hypoglycaemia of childhood.
- Published in:
- 1975
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- Publication type:
- journal article
Disaccharidase Deficiencies in Children With Chronic Abdominal Pain.
- Published in:
- 2017
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- Publication type:
- journal article
Visual hallucinations in a patient with adult onset acid maltase deficiency disorder.
- Published in:
- 2009
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- Publication type:
- journal article
Recurrent Encephalopathy with Metabolic Acidosis and Hypoglycemia: Do not Forget Fructose Metabolism.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Danon Disease with Internal Carotid Artery Occlusion Showing Good Clinical Outcome Due to Robust Collaterals.
- Published in:
- 2020
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- Publication type:
- Case Study
Donor-to-recipient transmission of factor XII deficiency by orthotopic liver transplantation.
- Published in:
- Baylor University Medical Center Proceedings, 2019, v. 32, n. 4, p. 596, doi. 10.1080/08998280.2019.1641041
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- Publication type:
- Article
Primary hyperoxaluria: Orthodontic management in a pediatric patient: A case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study