Works matching Homocystinuria
Results: 585
Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients.
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- Iranian Journal of Child Neurology, 2015, v. 9, n. 1, p. 94
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- Article
Homocystinuria with Lower Gastrointestinal Bleeding: First Case Report.
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- Medical Principles & Practice, 2013, v. 22, n. 5, p. 500, doi. 10.1159/000345639
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- Article
Angiopathy and Stroke Associated with Homocystinuria in Childhood.
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- Vascular & Endovascular Surgery, 2023, v. 57, n. 4, p. 417, doi. 10.1177/15385744221144978
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- Article
Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study.
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- Nutrients, 2023, v. 15, n. 9, p. 2112, doi. 10.3390/nu15092112
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- Article
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
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- Clinical Genetics, 2012, v. 81, n. 6, p. 563, doi. 10.1111/j.1399-0004.2011.01690.x
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- Article
Oxidative Stress in Homocystinuria Due to Cystathionine ß-Synthase Deficiency: Findings in Patients and in Animal Models.
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- Cellular & Molecular Neurobiology, 2017, v. 37, n. 8, p. 1477, doi. 10.1007/s10571-017-0478-0
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- Article
Lens subluxation in a patient with homocystinuria. Case report.
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- Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2021, n. 4, p. 86, doi. 10.31288/oftalmolzh202148697
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- Article
Homocystinuria presenting as a calcified right atrial mass.
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- Annals of Pediatric Cardiology, 2018, v. 11, n. 2, p. 214, doi. 10.4103/apc.APC_174_17
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- Article
Inaugural Cerebral Sinovenous Thrombosis Revealing Homocystinuria in a 2-Year-Old Boy.
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- Journal of Child Neurology, 2015, v. 30, n. 1, p. 107, doi. 10.1177/0883073813520502
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- Article
White Matter Changes in an Untreated, Newly Diagnosed Case of Classical Homocystinuria.
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- 2014
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- Publication type:
- Case Study
A case of homocystinuria: anesthetic implications.
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- 2014
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- Publication type:
- Case Study
Combinación de acidemia metilmalónica y homocisteinuria; a propósito de un caso.
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- 2015
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- Publication type:
- Case Study
Homocistinuria; curso clínico y tratamiento dietético; a propósito de dos casos.
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- Nutrición Hospitalaria, 2012, v. 27, n. 6, p. 2133, doi. 10.3305/nh.2012.27.6.6098
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- Article
Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
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- Pediatrics International, 2015, v. 57, n. 5, p. 884, doi. 10.1111/ped.12666
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- Article
Betaine anhydrous in homocystinuria: results from the RoCH registry.
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- 2019
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- Publication type:
- journal article
Liver transplantation for a patient with homocystinuria.
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- Pediatric Transplantation, 2012, v. 16, n. 7, p. E311, doi. 10.1111/j.1399-3046.2012.01666.x
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- Article
Cobalamin-C Methylmalonic Acidemia and Homocystinuria in Neonate Presenting as Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation.
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- Neonatology Today, 2019, v. 14, n. 4, p. 10
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- Article
Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.
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- Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020112
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- Article
Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison.
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- 2020
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- journal article
<italic>CBS</italic> mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 160, doi. 10.1002/mgg3.342
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- Article
Classical homocystinuria and psychiatric disturbances – A case report.
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- 2016
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- Publication type:
- Case Study
Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: A prospective cohort study.
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- Indian Pediatrics, 2015, v. 52, n. 2, p. 119, doi. 10.1007/s13312-015-0584-3
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- Article
HOMOCYSTINURIA : CHALLENGES IN EARLY DIAGNOSIS, MANAGEMENT AND OUTCOME.
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- Biochemical & Cellular Archives, 2021, v. 21, n. 1, p. 1311
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- Article
FEVR-Like Presentation of Homocystinuria.
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- 2014
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- Publication type:
- Case Study
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
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- Amino Acids, 2012, v. 42, n. 5, p. 1765, doi. 10.1007/s00726-011-0892-4
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- Article
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B and Folic Acid Importance.
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- Cellular & Molecular Neurobiology, 2015, v. 35, n. 6, p. 899, doi. 10.1007/s10571-015-0185-7
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- Article
Commentary: Ophthalmic manifestations of homocystinuria.
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- 2022
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- journal article
Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.
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- 2016
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- journal article
Vision of correction for classic homocystinuria.
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- 2016
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- journal article
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73475-5
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- Article
A High-Fat Diet Induces Epigenetic 1-Carbon Metabolism, Homocystinuria, and Renal-Dependent HFpEF.
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- Nutrients, 2025, v. 17, n. 2, p. 216, doi. 10.3390/nu17020216
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- Article
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.
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- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150357
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- Article
Homocistinuria: diagnóstico diferencial de talla alta sindrómica. A propósito de un caso.
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- Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2024, v. 11, n. 1, p. 34, doi. 10.24875/RME.23000004
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- Article
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.
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- 2019
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- Publication type:
- journal article
Skeletal abnormalities in homocystinuria.
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- 1977
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- Publication type:
- journal article
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
- Published in:
- Nutrients, 2023, v. 15, n. 15, p. 3355, doi. 10.3390/nu15153355
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- Article
Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.
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- Nutrients, 2020, v. 12, n. 9, p. 2895, doi. 10.3390/nu12092895
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- Article
Authors' Reply: Comment to Varied phenotype of Homocystinuria: Possible diagnostic error.
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- 2014
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- Letter to the Editor
Varied phenotype of Homocystinuria: Possible diagnostic error.
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- 2014
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- Publication type:
- Letter to the Editor
Varied phenotypic presentations of Homocystinuria in two siblings.
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- 2014
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- Publication type:
- Letter to the Editor
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.
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- Journal of Nutrition & Metabolism, 2017, p. 1, doi. 10.1155/2017/8570469
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- Article
Is homocystinuria a real challenge for anesthetist? Are we making a difference?
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- 2018
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- Publication type:
- Case Study
2D DIGE proteomic analysis highlights delayed postnatal repression of α-fetoprotein expression in homocystinuria model mice.
- Published in:
- FEBS Open Bio, 2015, v. 5, p. 535, doi. 10.1016/j.fob.2015.06.008
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- Article
DNA DAMAGE IN HOMOCYSTINURIA: 8-OXO-,8-DIHYDRO-2'-DEOXYGUANOSINE LEVELS IN CYSTATHIONINE-B-SYNTHASE DEFICIENT PATIENTS AND THE IN VITRO PROTECTIVE EFFECT OF N-ACETYL-L-CYSTEINE.
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- Clinical & Biomedical Research, 2018, v. 38, n. 1, p. 50, doi. 10.4322/2357-9730.76977
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- Article
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
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- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0530-9
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- Article
Arterial Stroke as an Isolated Manifestation of Homocystinuria in an Infant.
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- Journal of Pediatric Neurosciences, 2017, v. 12, n. 2, p. 206, doi. 10.4103/jpn.JPN_4_17
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- Publication type:
- Article
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
- Published in:
- 2001
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- Publication type:
- Case Study
CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 861, doi. 10.1002/mgg3.462
- Publication type:
- Article
Homocistinuria: características clínicas de una cohorte y pautas de atención.
- Published in:
- Acta Pediatrica de Mexico, 2022, v. 43, n. 1, p. 4
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- Publication type:
- Article
Treatment of Homocystinuria-Related Dystonia with Deep Brain Stimulation: A Case Report.
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- Stereotactic & Functional Neurosurgery, 2011, v. 89, n. 4, p. 210, doi. 10.1159/000325703
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- Publication type:
- Article