Found: 214
Select item for more details and to access through your institution.
Danon disease manifesting as dilated cardiomyopathy in a 37-year-old woman.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2024, v. 25, n. 6, p. e163, doi. 10.1093/ehjci/jead352
- By:
- Publication type:
- Article
Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 4, p. 1093, doi. 10.1007/s00467-023-06200-9
- By:
- Publication type:
- Article
Correction: Lumasiran: A Review in Primary Hyperoxaluria Type 1.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003
- By:
- Publication type:
- Article
Lumasiran: A Review in Primary Hyperoxaluria Type 1.
- Published in:
- Drugs, 2024, v. 84, n. 2, p. 219, doi. 10.1007/s40265-023-01987-1
- By:
- Publication type:
- Article
Correction to: Nedosiran: First Approval.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
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
- By:
- Publication type:
- Article
Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS<sup>®</sup>) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data.
- Published in:
- Journal of Patient-Reported Outcomes, 2024, v. 8, p. 1, doi. 10.1186/s41687-024-00686-z
- 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
Incidence of Inborn Errors of Metabolism in Newborn Infants: Five Years' Single-Center Experience, Jeddah, Saudi Arabia.
- Published in:
- Clinical Pediatrics, 2023, v. 62, n. 12, p. 1523, doi. 10.1177/00099228231163511
- By:
- Publication type:
- Article
Nedosiran: First Approval.
- Published in:
- Drugs, 2023, v. 83, n. 18, p. 1729, doi. 10.1007/s40265-023-01976-4
- By:
- Publication type:
- Article
Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2023, v. 21, n. 3, p. 228, doi. 10.4274/jcp.2023.56255
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Correction: Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Endogenous Fructose Production and Metabolism Drive Metabolic Dysregulation and Liver Disease in Mice with Hereditary Fructose Intolerance.
- Published in:
- Nutrients, 2023, v. 15, n. 20, p. 4376, doi. 10.3390/nu15204376
- By:
- Publication type:
- Article
Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.
- Published in:
- Indian Journal of Nephrology, 2023, v. 33, n. 5, p. 387, doi. 10.4103/ijn.ijn_140_22
- By:
- Publication type:
- Article
Velmanase Alfa-tycv.
- Published in:
- 2023
- Publication type:
- Product Review
Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.
- Published in:
- American Journal of Speech-Language Pathology, 2023, v. 32, n. 4, p. 1501, doi. 10.1044/2023_AJSLP-22-00382
- 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
Cipaglucosidase Alfa: First Approval.
- Published in:
- Drugs, 2023, v. 83, n. 8, p. 739, doi. 10.1007/s40265-023-01886-5
- 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
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
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
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 8, p. 1176, doi. 10.3390/healthcare11081176
- 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
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 11, doi. 10.3390/ijns9010011
- By:
- Publication type:
- Article
Increased Carotid Intima-media Thickness and Its Association with Carbohydrate Metabolism and Adipocytokines in Children Treated with Recombinant Growth Hormone.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 1, p. 69, doi. 10.4274/jcrpe.galenos.2022.2022-8-19
- 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
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
In special coagulation, think horses not zebras: A clotted sample from a patient with congenital disorder of glycosylation.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Late-Onset Pompe Disease: A Review of Clinical Features.
- Published in:
- Neurology Alert, 2023, v. 42, n. 6, p. 1
- 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
Favism: Clinical Features at Different Ages.
- Published in:
- Nutrients, 2023, v. 15, n. 2, p. 343, doi. 10.3390/nu15020343
- By:
- Publication type:
- Article
Journal Scan.
- Published in:
- Asian Journal of Pediatric Nephrology, 2023, v. 6, n. 1, p. 37, doi. 10.4103/ajpn.ajpn_9_23
- By:
- Publication type:
- Article
Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Newborn Screening Is on a Collision Course with Public Health Ethics.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 51, doi. 10.3390/ijns8040051
- By:
- Publication type:
- Article
A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 61, doi. 10.3390/ijns8040061
- By:
- Publication type:
- Article
Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 6, p. 1404, doi. 10.1002/jgc4.1615
- By:
- Publication type:
- Article
Recurrent Encephalopathy with Metabolic Acidosis and Hypoglycemia: Do not Forget Fructose Metabolism.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01355-x
- By:
- Publication type:
- Article
A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030043
- By:
- Publication type:
- Article
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 3, p. 275, doi. 10.4274/jcrpe.galenos.2022.2021-10-14
- By:
- Publication type:
- Article
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Improving Treatment Options for Primary Hyperoxaluria.
- Published in:
- Drugs, 2022, v. 82, n. 10, p. 1077, doi. 10.1007/s40265-022-01735-x
- By:
- Publication type:
- Article
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Optical coherence tomography: Angiography visualization of retinal oxalosis in primary hyperoxaluria, a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
High Frequency of Glucose-6-Phosphate Dehydrogenase Deficiency in Patients Diagnosed with Celiac Disease.
- Published in:
- Nutrients, 2022, v. 14, n. 9, p. 1815, doi. 10.3390/nu14091815
- 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
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01219-4
- 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