Found: 43
Select item for more details and to access through your institution.
Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease.
- Published in:
- European Radiology, 2023, v. 33, n. 3, p. 2039, doi. 10.1007/s00330-022-09183-7
- By:
- Publication type:
- Article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
- By:
- Publication type:
- Article
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 167, doi. 10.3233/JND-230164
- By:
- Publication type:
- Article
The cardiovascular phenotype of adult patients with phenylketonuria.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).
- Published in:
- 2019
- By:
- Publication type:
- journal article
Retinal and optic nerve degeneration in α-mannosidosis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 461, doi. 10.1093/brain/awac379
- By:
- Publication type:
- Article
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age.
- Published in:
- Drug Design, Development & Therapy, 2020, v. 14, p. 2149, doi. 10.2147/DDDT.S249433
- By:
- Publication type:
- Article
Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Retinal thinning in phenylketonuria and Gaucher disease type 3.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 4, p. 1153, doi. 10.1007/s00417-021-05424-5
- By:
- Publication type:
- Article
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 883, doi. 10.1002/acn3.52002
- By:
- Publication type:
- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
- By:
- Publication type:
- Article
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
- Published in:
- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0252825
- By:
- Publication type:
- Article
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-6
- By:
- Publication type:
- Article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 674, doi. 10.1002/jimd.12731
- By:
- Publication type:
- Article
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
- By:
- Publication type:
- Article
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1063, doi. 10.1002/jimd.12653
- By:
- Publication type:
- Article
Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 705, doi. 10.1002/jimd.12602
- By:
- Publication type:
- Article
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 15, doi. 10.1002/jimd.12563
- By:
- Publication type:
- Article
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 340, doi. 10.1002/jimd.12467
- By:
- Publication type:
- Article
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 857, doi. 10.1002/jimd.12364
- By:
- Publication type:
- Article
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 438, doi. 10.1002/jimd.12072
- By:
- Publication type:
- Article
Pharmacokinetics, pharmacodynamics, and safety of moss‐aGalactosidase A in patients with Fabry disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 527, doi. 10.1002/jimd.12052
- By:
- Publication type:
- Article
Neonatal manifestation of multiple sulfatase deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome).
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162612
- By:
- Publication type:
- Article
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349
- By:
- Publication type:
- Article
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
- Published in:
- Human Mutation, 2005, v. 26, n. 6, p. 590, doi. 10.1002/humu.20270
- By:
- Publication type:
- Article
cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 239, doi. 10.1002/humu.20131
- By:
- Publication type:
- Article
Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 254, doi. 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W
- By:
- Publication type:
- Article
Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 371, doi. 10.1002/jmd2.12291
- By:
- Publication type:
- Article
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 8, p. 732, doi. 10.1111/dmcn.12425
- By:
- Publication type:
- Article
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
- Published in:
- Clinical Pharmacology & Therapeutics, 2020, v. 108, n. 2, p. 326, doi. 10.1002/cpt.1832
- By:
- Publication type:
- Article
Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 1004, doi. 10.3390/jcm9041004
- By:
- Publication type:
- Article
Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study.
- Published in:
- Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 251, doi. 10.1159/000510260
- By:
- Publication type:
- Article
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Saccadic reaction time and ocular findings in phenylketonuria.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137603
- By:
- Publication type:
- Article
Timing of Cerebral Developmental Disruption in Molybdenum Cofactor Deficiency.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
- Published in:
- 2022
- By:
- Publication type:
- journal article