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Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders.
- Published in:
- Nutrients, 2024, v. 16, n. 17, p. 2812, doi. 10.3390/nu16172812
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- Publication type:
- Article
The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review.
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- Journal of Pediatrics Review, 2021, v. 9, n. 2, p. 137, doi. 10.32598/jpr.9.2.584.1
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- Publication type:
- Article
Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.
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- Pediatric Nephrology, 2017, v. 32, n. 6, p. 1089, doi. 10.1007/s00467-017-3615-6
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- Publication type:
- Article
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
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- Pediatric Nephrology, 2017, v. 32, n. 5, p. 733, doi. 10.1007/s00467-016-3399-0
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- Publication type:
- Article
Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition.
- Published in:
- Nutrients, 2024, v. 16, n. 1, p. 135, doi. 10.3390/nu16010135
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- Publication type:
- Article
Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas.
- Published in:
- Nutrients, 2023, v. 15, n. 16, p. 3566, doi. 10.3390/nu15163566
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- Publication type:
- Article
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
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- Nutrients, 2023, v. 15, n. 15, p. 3355, doi. 10.3390/nu15153355
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- Publication type:
- Article
A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.
- Published in:
- Nutrients, 2023, v. 15, n. 14, p. 3105, doi. 10.3390/nu15143105
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- Publication type:
- 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.
- Published in:
- Nutrients, 2023, v. 15, n. 9, p. 2112, doi. 10.3390/nu15092112
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- Article
One-Carbon Metabolism in Alzheimer's Disease and Parkinson's Disease Brain Tissue.
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- Nutrients, 2022, v. 14, n. 3, p. 599, doi. 10.3390/nu14030599
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- Publication type:
- Article
Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.
- Published in:
- Nutrients, 2020, v. 12, n. 9, p. 2895, doi. 10.3390/nu12092895
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- Publication type:
- Article
Targeting Glutathione and Cystathionine β-Synthase in Ovarian Cancer Treatment by Selenium–Chrysin Polyurea Dendrimer Nanoformulation.
- Published in:
- Nutrients, 2019, v. 11, n. 10, p. 2523, doi. 10.3390/nu11102523
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- Publication type:
- Article
Cobalamin-C Methylmalonic Acidemia and Homocystinuria in Neonate Presenting as Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation.
- Published in:
- Neonatology Today, 2019, v. 14, n. 4, p. 10
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- Publication type:
- Article
Evaluation of tracer labelled methionine load test in vitamin B-12 deficient adolescent women.
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- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0196970
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- Publication type:
- Article
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
- Published in:
- 2019
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- Publication type:
- journal article
Betaine anhydrous in homocystinuria: results from the RoCH registry.
- Published in:
- 2019
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- Publication type:
- journal article
Headache, oestrogens, homocysteinaemia and cerebral venous thrombosis.
- Published in:
- 2016
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- Publication type:
- Case Study
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
- Published in:
- 2001
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- Publication type:
- case study
HOMOCYSTINURIA : CHALLENGES IN EARLY DIAGNOSIS, MANAGEMENT AND OUTCOME.
- Published in:
- Biochemical & Cellular Archives, 2021, v. 21, n. 1, p. 1311
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- Publication type:
- 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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- Publication type:
- Article
FEVR-Like Presentation of Homocystinuria.
- Published in:
- 2014
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- Publication type:
- Case Study
TEACHING FILE.
- Published in:
- 2016
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- Publication type:
- Case Study
Classical homocystinuria and psychiatric disturbances – A case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
- Published in:
- Genetics, 2012, v. 190, n. 4, p. 1309, doi. 10.1534/genetics.111.137471
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- Publication type:
- Article
HS-Positive Neurons in Some Nuclei of the Cardiovascular Centers of the Rat Brain.
- Published in:
- Neuroscience & Behavioral Physiology, 2013, v. 43, n. 2, p. 139, doi. 10.1007/s11055-013-9704-5
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- Publication type:
- Article
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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- 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
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.
- Published in:
- 2019
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- Publication type:
- journal article
Lens subluxation in a patient with homocystinuria. Case report.
- Published in:
- Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2021, n. 4, p. 86, doi. 10.31288/oftalmolzh202148697
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- Publication type:
- Article
Evaluation of Metabolic and Nutritional Status of Children with Autism Spectrum Disorders: Results of a Single Center in Turkey.
- Published in:
- Medical Journal of Bakirkoy, 2020, v. 16, n. 3, p. 231, doi. 10.5222/BMJ.2020.44153
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- Publication type:
- Article
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.
- Published in:
- Journal of Nutrition & Metabolism, 2017, p. 1, doi. 10.1155/2017/8570469
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- Publication type:
- Article
A case of homocystinuria: anesthetic implications.
- Published in:
- 2014
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- Publication type:
- Case Study
Skeletal abnormalities in homocystinuria.
- Published in:
- 1977
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- Publication type:
- journal article
Delayed diagnosis of cobalamin E defect in an adolescent patient.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 2, p. 140, doi. 10.4103/jpn.JPN_132_19
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- Publication type:
- Article
Arterial Stroke as an Isolated Manifestation of Homocystinuria in an Infant.
- Published in:
- 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
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 1, p. 633
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- Publication type:
- Article
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
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- Turkish Journal of Pediatrics, 2013, v. 55, n. 6, p. 633
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- Publication type:
- 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.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0530-9
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- Publication type:
- Article
Oculo-Renal Pathologies- 'Two Sides of the Same Coin'.
- Published in:
- Indian Journal of Nephrology, 2023, v. 33, n. 4, p. 317, doi. 10.4103/ijn.ijn_182_22
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- Publication type:
- Article
Inherited metabolic diseases: The value of newborn screening.
- Published in:
- Community Practitioner, 2016, v. 89, n. 7, p. 30
- Publication type:
- Article
Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.
- Published in:
- ACG Case Reports Journal, 2018, v. 5, p. 1, doi. 10.14309/crj.2018.93
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- Publication type:
- Article
Folate and Genetics.
- Published in:
- Journal of Food Science (Wiley-Blackwell), 2004, v. 69, n. 1, p. SNQ65, doi. 10.1111/j.1365-2621.2004.tb17890.x
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- Publication type:
- Article
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69565-z
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- Publication type:
- Article
Cystathionine β-synthase deficiency: different changes in proteomes of thrombosis-resistant Cbs−/− mice and thrombosis-prone CBS−/− humans.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67672-5
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- Publication type:
- Article
Bilateral Transient Pupil Closure after Iris Supported Intraocular Lens Implantation in a Case with Marfan Syndrome.
- Published in:
- 2012
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- Publication type:
- Case Study
Homocystinuria presenting as a calcified right atrial mass.
- Published in:
- Annals of Pediatric Cardiology, 2018, v. 11, n. 2, p. 214, doi. 10.4103/apc.APC_174_17
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- Publication type:
- Article
Commentary: Ophthalmic manifestations of homocystinuria.
- Published in:
- 2022
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- Publication type:
- journal article
Purification, crystallization and preliminary crystallographic analysis of the catalytic core of cystathionine β-synthase from Saccharomyces cerevisiae.
- Published in:
- Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 3, p. 320, doi. 10.1107/S2053230X14001502
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- Publication type:
- Article
Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.
- Published in:
- Pediatrics International, 2016, v. 58, n. 8, p. 763, doi. 10.1111/ped.12953
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- Publication type:
- Article
Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
- Published in:
- Pediatrics International, 2015, v. 57, n. 5, p. 884, doi. 10.1111/ped.12666
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- Publication type:
- Article