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Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition.
- Published in:
- FASEB Journal, 2024, v. 38, n. 13, p. 1, doi. 10.1096/fj.202400213RR
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- Publication type:
- Article
The neuronal ceroid lipofuscinosis type 2 – associated variants: An analysis of alterations in the TPP1 gene and genotype–phenotype correlation in Ukraine.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 272, doi. 10.1002/jmd2.12423
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- Publication type:
- Article
Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.
- Published in:
- Current Issues in Molecular Biology, 2024, v. 46, n. 6, p. 6112, doi. 10.3390/cimb46060365
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- Publication type:
- Article
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.
- Published in:
- Molecules, 2024, v. 29, n. 2, p. 453, doi. 10.3390/molecules29020453
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- Publication type:
- Article
pH‐Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher‐Related L444P/L444P Mutations in GBA1 Gene.
- Published in:
- ChemBioChem, 2024, v. 25, n. 1, p. 1, doi. 10.1002/cbic.202300730
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- Publication type:
- Article
Light‐Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological Chaperones.
- Published in:
- Chemistry - A European Journal, 2023, v. 29, n. 19, p. 1, doi. 10.1002/chem.202203841
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- Publication type:
- Article
Amphiphilic Iminosugar Pharmacological Chaperones towards β‐Glucocerebrosidase: Self‐Assembly and Biological Activity.
- Published in:
- European Journal of Organic Chemistry, 2023, v. 26, n. 11, p. 1, doi. 10.1002/ejoc.202200911
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- Publication type:
- Article
Front Cover: Amphiphilic Iminosugar Pharmacological Chaperones towards β‐Glucocerebrosidase: Self‐Assembly and Biological Activity (Eur. J. Org. Chem. 11/2023).
- Published in:
- European Journal of Organic Chemistry, 2023, v. 26, n. 11, p. 1, doi. 10.1002/ejoc.202300098
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- Publication type:
- Article
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
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- Pediatric Transplantation, 2022, v. 26, n. 6, p. 1, doi. 10.1111/petr.14318
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- Publication type:
- Article
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C.
- Published in:
- Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081962
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- Publication type:
- Article
Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.
- Published in:
- Molecules, 2022, v. 27, n. 13, p. 4008, doi. 10.3390/molecules27134008
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- Publication type:
- Article
3,4,5‐Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers.
- Published in:
- ChemBioChem, 2022, v. 23, n. 11, p. 1, doi. 10.1002/cbic.202200077
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- Publication type:
- Article
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
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- Publication type:
- Article
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4422, doi. 10.3390/ijms23084422
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- Publication type:
- Article
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 3, p. 1, doi. 10.1007/s00018-022-04180-x
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- Publication type:
- Article
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG".
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 382, doi. 10.1002/ajmg.a.62511
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- Publication type:
- Article
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
- Published in:
- Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270
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- Publication type:
- Article
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
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- Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 9, p. 1516, doi. 10.1515/cclm-2021-0316
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- Publication type:
- Article
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
- Published in:
- Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
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- Publication type:
- Article
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1187, doi. 10.1002/ajmg.a.62061
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- Publication type:
- Article
SARS-CoV-2 infection in a patient with propionic acidemia.
- Published in:
- 2020
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- Publication type:
- case study
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1371
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- Publication type:
- Article
Synthesis of "All-Cis" Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors.
- Published in:
- Molecules, 2020, v. 25, n. 19, p. 4526, doi. 10.3390/molecules25194526
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- Publication type:
- Article
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Imino‐ and Azasugar Protonation Inside Human Acid β‐Glucosidase, the Enzyme that is Defective in Gaucher Disease.
- Published in:
- Angewandte Chemie, 2020, v. 132, n. 26, p. 10552, doi. 10.1002/ange.202002850
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- Publication type:
- Article
Imino‐ and Azasugar Protonation Inside Human Acid β‐Glucosidase, the Enzyme that is Defective in Gaucher Disease.
- Published in:
- Angewandte Chemie International Edition, 2020, v. 59, n. 26, p. 10466, doi. 10.1002/anie.202002850
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- Publication type:
- Article
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.
- Published in:
- Acta Myologica, 2020, v. 39, n. 1, p. 13, doi. 10.36185/2532-1900-002
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- Publication type:
- Article
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5
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- Publication type:
- Article
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 1, p. 92, doi. 10.1007/s00415-018-9084-4
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- Publication type:
- Article
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0553-2
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- Publication type:
- Article
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0694-6
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- Publication type:
- Article
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
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- Publication type:
- Article
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 8, p. e776, doi. 10.1111/aos.13441
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- Publication type:
- Article
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1529, doi. 10.1007/s11011-017-0044-y
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- Publication type:
- Article
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
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- Publication type:
- Article
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease.
- Published in:
- ChemBioChem, 2015, v. 16, n. 14, p. 2054, doi. 10.1002/cbic.201500292
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- Publication type:
- Article
Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1271, doi. 10.1002/humu.22635
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- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
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- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- 2014
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- Publication type:
- journal article
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease.
- Published in:
- 2013
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- Publication type:
- Journal Article
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson–Fabry disease.
- Published in:
- European Journal of Heart Failure, 2013, v. 15, n. 12, p. 1363, doi. 10.1093/eurjhf/hft104
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- Publication type:
- Article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-114
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- Publication type:
- Article
Anderson-Fabry, the histrionic disease: from genetics to clinical management.
- Published in:
- Cardiogenetics, 2013, v. 3, n. 1s, p. 13, doi. 10.4081/cardiogenetics.2013.s1.e3
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- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-27
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- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies.
- Published in:
- Scientific World Journal, 2013, p. 1, doi. 10.1155/2013/625824
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- Publication type:
- Article
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?
- Published in:
- 2009
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- Publication type:
- Letter