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Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6578, doi. 10.3390/ijms25126578
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- Article
Phase 1 Healthy Volunteer Study of AL01211, an Oral, Non‐brain Penetrant Glucosylceramide Synthase Inhibitor, to Treat Fabry Disease and Type 1 Gaucher Disease.
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- Clinical Pharmacology in Drug Development, 2024, v. 13, n. 6, p. 696, doi. 10.1002/cpdd.1375
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- Article
Superoxide Dismutase and Clopidogrel: A Potential Role in Peripheral Arterial Disease Treatment.
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- Doklady Biochemistry & Biophysics, 2024, v. 516, n. 1, p. 83, doi. 10.1134/S1607672924600088
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- Article
Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency—The Specificity of Treatment and Care: A Case Report.
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- Medicina (1010660X), 2024, v. 60, n. 6, p. 1006, doi. 10.3390/medicina60061006
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- Article
Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
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- Cells (2073-4409), 2024, v. 13, n. 10, p. 877, doi. 10.3390/cells13100877
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- Article
Failure of Autophagy in Pompe Disease.
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- Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 573, doi. 10.3390/biom14050573
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- Article
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
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- Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae160
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- Article
Ommaya reservoir placement using ultrasound guidance via anterior fontanelle combined with frameless electromagnetic neuronavigation in patients with mucopolysaccharidosis type 2: Case reports and review of the literature.
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- Child's Nervous System, 2024, v. 40, n. 5, p. 1603, doi. 10.1007/s00381-023-06265-9
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- Article
Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants.
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- Clinical Pharmacology in Drug Development, 2024, v. 13, n. 5, p. 506, doi. 10.1002/cpdd.1363
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- Article
Comparative Investigation of pH–Dependent Availability of Pancreatic Enzyme Preparations In Vitro.
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- Pharmaceuticals (14248247), 2024, v. 17, n. 5, p. 552, doi. 10.3390/ph17050552
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- Article
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03195-w
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- Article
The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease.
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- Cells (2073-4409), 2024, v. 13, n. 8, p. 716, doi. 10.3390/cells13080716
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- Article
Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
- Published in:
- 2024
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- Publication type:
- Case Study
Quantifying the effect of glucose 6-phosphate dehydrogenase deficiency on glycated hemoglobin values in children and adolescents with type 1 diabetes.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57958-3
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- Article
Bilirubin metabolism: delving into the cellular and molecular mechanisms to predict complications.
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- Egyptian Journal of Internal Medicine, 2024, v. 36, n. 1, p. 1, doi. 10.1186/s43162-024-00298-5
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- Article
Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3232, doi. 10.3390/ijms25063232
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- Article
Women with Gaucher Disease.
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- Biomedicines, 2024, v. 12, n. 3, p. 579, doi. 10.3390/biomedicines12030579
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- Article
Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature.
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- Cardiogenetics, 2024, v. 14, n. 1, p. 38, doi. 10.3390/cardiogenetics14010003
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- Article
GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
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- Cells (2073-4409), 2024, v. 13, n. 5, p. 437, doi. 10.3390/cells13050437
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- Article
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
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- European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1341, doi. 10.1007/s00431-023-05376-4
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- Article
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 750, doi. 10.1210/clinem/dgad577
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- Article
Predictors of Cardiovascular Morbidities in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. e1133, doi. 10.1210/clinem/dgad628
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- Article
Airway and Anaesthetic Management of Adult Patients with Mucopolysaccharidoses Undergoing Cardiac Surgery.
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- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1366, doi. 10.3390/jcm13051366
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- Article
Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.
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- Journal of the American Medical Informatics Association, 2024, v. 31, n. 3, p. 692, doi. 10.1093/jamia/ocad244
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- Article
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1335058
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- Article
Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.
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- Malaria Journal, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12936-024-04864-8
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- Article
Late‐onset aspirin‐related hemolysis and subsequent subdural hemorrhage in patient with glucose‐6‐phosphate dehydrogenase deficiency.
- Published in:
- 2024
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- Publication type:
- Case Study
Dermal melanocytosis as a sign of GM1 gangliosidosis.
- Published in:
- European Journal of Pediatric Dermatology, 2024, v. 34, n. 1, p. 12
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- Article
METHEMOGLOBINEMIA WITH NEUROLOGICAL MANIFESTATIONS: A CASE OF RECESSIVE CONGENITAL METHEMOGLOBINEMIA TYPE II.
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- 2024
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- Publication type:
- Case Study
A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.
- Published in:
- Medicina (1010660X), 2024, v. 60, n. 1, p. 135, doi. 10.3390/medicina60010135
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- Publication type:
- Article
Congenital erythropoietic porphyria five years observation with standard treatment: a case report.
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- Oxford Medical Case Reports, 2024, v. 2024, n. 1, p. 1, doi. 10.1093/omcr/omad151
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- Article
Emotional and behavioural functioning in children with tyrosinaemia type 1.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2024, v. 30, n. 1, p. 8, doi. 10.5114/pedm.2024.138666
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- Publication type:
- Article
GLYCOGEN STORAGE DISEASE - TYPE 3.
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- Pediatric Oncall Journal, 2024, v. 21, n. 1, p. 59, doi. 10.7199/ped.oncall.2024.8
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- Article
An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report.
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- 2023
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- Publication type:
- Case Study
Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17428, doi. 10.3390/ijms242417428
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- Article
Detection of GSTM1 -null Genotype in Women Undergoing IVF Treatment.
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- Journal of Clinical Medicine, 2023, v. 12, n. 23, p. 7269, doi. 10.3390/jcm12237269
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- Article
Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females.
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- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0294200
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- Article
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of ÷-aminobutyric acid metabolism.
- Published in:
- Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad291
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- Article
A rare case of Crigler–Najjar syndrome type 2: A case report and literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15924, doi. 10.3390/ijms242115924
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- Publication type:
- Article
Experimental Models of CNS Disorders Related to Lysosomal Storage Diseases.
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- Journal of Evolutionary Biochemistry & Physiology, 2023, v. 59, n. 6, p. 2072, doi. 10.1134/S0022093023060145
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- Publication type:
- Article
Evaluation of the prevalence of glucose-6-phosphate dehydrogenase deficiency in Al-Qassim region of Saudi Arabia.
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- Egyptian Journal of Internal Medicine, 2023, v. 35, n. 1, p. 1, doi. 10.1186/s43162-023-00255-8
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- Publication type:
- Article
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
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- Human Genetics, 2023, v. 142, n. 10, p. 1491, doi. 10.1007/s00439-023-02597-3
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- Article
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2224
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- Article
Nanoformulation of Therapeutic Enzymes: A Short Review.
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- Periodica Polytechnica: Chemical Engineering, 2023, v. 67, n. 4, p. 624, doi. 10.3311/PPch.22826
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- Article
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1254909
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- Article
Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02894-0
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- Publication type:
- Article
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 17, p. 2812, doi. 10.3390/diagnostics13172812
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- Publication type:
- Article
A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency.
- Published in:
- 2023
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- Publication type:
- Case Study