Works matching DE "INBORN errors of carbohydrate metabolism"
Results: 240
Prevalence of thalassaemia, iron-deficiency anaemia and glucose-6-phosphate dehydrogenase deficiency among Arab migrating nomad children, southern Islamic Republic of Iran.
- Published in:
- Eastern Mediterranean Health Journal, 2014, v. 20, n. 11, p. 726
- By:
- Publication type:
- Article
Treatment of hyperoxaluria: What is the urologist's role?
- Published in:
- 2021
- By:
- Publication type:
- Interview
Company teams with researchers on hyperoxaluria Tx trial.
- Published in:
- Urology Times, 2019, v. 47, n. 5, p. 31
- 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.
- Published in:
- Drugs & Therapy Perspectives, 2025, v. 41, n. 1, p. 19, doi. 10.1007/s40267-024-01127-z
- By:
- Publication type:
- Article
Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.
- Published in:
- Journal of Postgraduate Medicine, 2018, v. 64, n. 3, p. 180, doi. 10.4103/jpgm.JPGM_216_17
- By:
- Publication type:
- Article
Histopathologic Perspective of Combined Liver–kidney Transplant: In Primary Hyperoxaluria Type 1 Patient.
- Published in:
- Indian Journal of Transplantation, 2024, v. 18, n. 3, p. 324, doi. 10.4103/ijot.ijot_22_24
- By:
- Publication type:
- Article
Recurrent calcium oxalate calculi: the culprit in disguise.
- Published in:
- Pediatric Nephrology, 2025, v. 40, n. 3, p. 705, doi. 10.1007/s00467-024-06555-7
- By:
- Publication type:
- Article
Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.
- Published in:
- Pediatric Nephrology, 2025, v. 40, n. 3, p. 731, doi. 10.1007/s00467-024-06536-w
- By:
- Publication type:
- Article
Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.
- Published in:
- Pediatric Nephrology, 2025, v. 40, n. 1, p. 85, doi. 10.1007/s00467-024-06467-6
- By:
- Publication type:
- Article
Diagnosis and management of primary hyperoxalurias: best practices.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 11, p. 3143, doi. 10.1007/s00467-024-06328-2
- By:
- Publication type:
- Article
Natural history of urine and plasma oxalate in children with primary hyperoxaluria type 1.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 1, p. 141, doi. 10.1007/s00467-023-06074-x
- By:
- Publication type:
- Article
Long-term outcomes after pre-emptive liver transplantation in primary hyperoxaluria type 1.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 6, p. 1811, doi. 10.1007/s00467-022-05803-y
- By:
- Publication type:
- Article
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 6, p. 1801, doi. 10.1007/s00467-022-05784-y
- By:
- Publication type:
- Article
The retinal phenotype in primary hyperoxaluria type 2 and 3.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 5, p. 1485, doi. 10.1007/s00467-022-05765-1
- By:
- Publication type:
- Article
Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 4, p. 1075, doi. 10.1007/s00467-022-05684-1
- By:
- Publication type:
- Article
Aggressive immunotherapy combined with bortezomib and rituximab for membranous nephropathy associated with enzyme replacement therapy in Pompe disease.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 3, p. 921, doi. 10.1007/s00467-022-05672-5
- By:
- Publication type:
- Article
Genetic assessment in primary hyperoxaluria: why it matters.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 3, p. 625, doi. 10.1007/s00467-022-05613-2
- By:
- Publication type:
- Article
ePHex: a phase 3, double-blind, placebo-controlled, randomized study to evaluate long-term efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 2, p. 403, doi. 10.1007/s00467-022-05591-5
- By:
- Publication type:
- Article
The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 4, p. 907, doi. 10.1007/s00467-021-05393-1
- By:
- Publication type:
- Article
Novel therapeutic approaches for the primary hyperoxalurias.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 9, p. 2593, doi. 10.1007/s00467-020-04817-8
- By:
- Publication type:
- Article
Transplantation outcomes in patients with primary hyperoxaluria: a systematic review.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 8, p. 2217, doi. 10.1007/s00467-021-05043-6
- By:
- Publication type:
- Article
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 8, p. 2361, doi. 10.1007/s00467-021-04953-9
- By:
- Publication type:
- Article
Vitamin C overload may contribute to systemic oxalosis in children receiving dialysis.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 2, p. 435, doi. 10.1007/s00467-020-04702-4
- By:
- Publication type:
- Article
Plasma oxalate levels in primary hyperoxaluria type I show significant intra-individual variation and do not correlate with kidney function.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 7, p. 1227, doi. 10.1007/s00467-020-04531-5
- By:
- Publication type:
- Article
Oxalobacter formigenes treatment combined with intensive dialysis lowers plasma oxalate and halts disease progression in a patient with severe infantile oxalosis.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 6, p. 1121, doi. 10.1007/s00467-019-04463-9
- By:
- Publication type:
- Article
Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 12, p. 2591, doi. 10.1007/s00467-019-04330-7
- By:
- Publication type:
- Article
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 10, p. 1785, doi. 10.1007/s00467-019-04279-7
- By:
- Publication type:
- Article
Metabolite diagnosis of primary hyperoxaluria type 3.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 8, p. 1443, doi. 10.1007/s00467-018-3967-6
- By:
- Publication type:
- Article
A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 5, p. 781, doi. 10.1007/s00467-016-3553-8
- By:
- Publication type:
- Article
Bone impairment in primary hyperoxaluria: a review.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 1, p. 1, doi. 10.1007/s00467-015-3048-z
- By:
- Publication type:
- Article
Primary hyperoxalurias: diagnosis and treatment.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 10, p. 1781, doi. 10.1007/s00467-014-3030-1
- By:
- Publication type:
- Article
Renal function can be impaired in children with primary hyperoxaluria type 3.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 10, p. 1807, doi. 10.1007/s00467-015-3090-x
- By:
- Publication type:
- Article
Combined liver and kidney transplantation in children.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 5, p. 805, doi. 10.1007/s00467-013-2487-7
- By:
- Publication type:
- Article
Primary hyperoxaluria type 1: practical and ethical issues.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 12, p. 2273, doi. 10.1007/s00467-013-2444-5
- By:
- Publication type:
- Article
Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.
- Published in:
- Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Glycogenosis type V or McArdle's disease.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Beneficios de la dieta cetogénica en la enfermedad de McArdle: empoderando a un paciente.
- Published in:
- Metas de Enfermería, 2018, v. 21, n. 8, p. 28
- By:
- Publication type:
- Article
Spinal fusion as a viable treatment option for scoliosis management in Pompe disease: a postoperative 3-year follow-up.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Primary Hyperoxaluria Involving the Liver With Crystal Deposits.
- Published in:
- ACG Case Reports Journal, 2019, v. 6, n. 2, p. 1, doi. 10.14309/crj.0000000000000029
- By:
- Publication type:
- Article
My Diagnostic Odyssey—A Call to Expand Access to Genomic Testing for the Next Generation.
- Published in:
- Hastings Center Report, 2018, v. 48, p. S32, doi. 10.1002/hast.882
- By:
- Publication type:
- Article
Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation.
- Published in:
- Journal of Palliative Medicine, 2017, v. 20, n. 1, p. 104, doi. 10.1089/jpm.2016.0232
- By:
- Publication type:
- Article
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Cell-Derived Microparticles in Blood Products from Blood Donors Deficient in Glucose-6-Phosphate Dehydrogenase.
- Published in:
- Laboratory Medicine, 2021, v. 52, n. 6, p. 528, doi. 10.1093/labmed/lmab007
- By:
- Publication type:
- Article
An Unexpected Emergency Request for Glucose-6-Phosphate Dehydrogenase Testing in a 9-Year-Old African American Boy.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Analysis of voice quality in patients with late-onset Pompe disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article