Results 61 to 70 of about 10,319 (231)

Betaine anhydrous in homocystinuria: results from the RoCH registry

Orphanet Journal of Rare Diseases, 2019
Background The Registry of Adult and Paediatric Patients Treated with Cystadane® – Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®)
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot   +21 more
doaj   +1 more source

Betaine Mitigates Paclitaxel‐Induced Hepatotoxicity in Rats by Regulating Oxidative Stress, Inflammation, Apoptosis, and Autophagy

Food Science &Nutrition, Volume 13, Issue 10, October 2025.
This study investigated the protective effect of betaine (BTN) against paclitaxel (PTL)‐induced liver injury in rats. The results showed that betaine reduced PTL‐induced liver injury by improving antioxidant levels, reducing inflammation, apoptosis, and regulating autophagy.
Esmaeel Babaeenezhad, Niloofar Moammer, Marjan Joudaki, Omid Dezfoulian, Sahar Yarahmadi, Seifollah Bahramikia   +5 more
wiley   +1 more source

Health Functionalities of Betaine in Patients With Homocystinuria

Frontiers in Nutrition, 2021
Homocystinuria is a medical condition that can have widespread and harmful effects on multiple organ systems within the body. This disease is caused by a deficiency in one of the enzymes involved in the methionine metabolism pathway. One example would be
Chelsea Truitt, Wouter D. Hoff, Ratnakar Deole   +2 more
doaj   +1 more source

Influence of homocysteine on the physical structure and molecular mobility of elastin network in cultured arteries [PDF]

, 2009
The thermal and dielectric properties of the elastin network were investigated in arteries cultured with physiological and pathological concentrations of homocysteine, an aminoacid responsible of histological impairments in human arteries.
Chareyre, Corinne, Charpiot, Philippe, Dandurand, Jany, Foucault-Bertaud, Alexandrine, Lacabanne, Colette, Lamy, Edouard, Samouillan, Valérie   +6 more
core   +2 more sources

Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Pyridox(am)ine 5′‐phosphate oxidase (PNPO) deficiency is an ultrarare inherited neurometabolic disease, characterized by primarily neonatal‐onset B6‐responsive epileptic encephalopathies. Treatment often requires sustainable access to high‐quality pyridoxal‐5′‐phosphate (PLP, i.e., active vitamin B6), although some patients (also) respond to ...
Nina N. Stolwijk, Laura van Dussen, Niels D. Reijnhout, Marion M. M. G. Brands, Bregje Jaeger, Peter T. Clayton, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos   +4 more
doaj   +1 more source

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy‐related ...
Marta Gil‐González, Carolina Arias, Jean‐Marie Saudubray, Roser Colomé‐Roura, Ángeles García‐Cazorla   +4 more
wiley   +1 more source

Homocystinuria and early onset schizophrenia: a case report

Psychiatry and Clinical Psychopharmacology, 2021
Although schizophrenia is known as a late adolescence or early adulthood disorder psychotic symptoms can be seen in children. Schizophrenia which begins before 17-18 years of age is named as “early onset schizophrenia” and before age of 13 is named as ...
Cumhur Taş, Ayşen Esen Danacı
doaj  

Ocular manifestations of homocystinuria due to cystathionine beta-synthase deficiency: A rare case report with genetic analysis

TNOA Journal of Ophthalmic Science and Research, 2020
Microspherophakia is a developmental lens anomaly characterized by increased anteroposterior diameter and reduced equatorial diameter, which predisposes to secondary glaucoma. A 12-year-old boy presented with diminution of vision.
Damaris Magdalene, Ronel Soibam, Riddhi Raichura, Saurabh Deshmukh, Surpriya Hawaibam, Krati Gupta   +5 more
doaj   +1 more source

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme [PDF]

, 2008
The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots.
AE ten Hoedt, B Wilcken, D. E. Castiñeiras, E Martins, F. J. Corrales, G Andria, H Tada, HJ Blom, I Perez-Mato, J. M. Fraga, M Ito, M Linnebank, M Nagao, M. D. Bóveda, M. I. Mora, M. L. Couce, ME Chamberlin, ME Chamberlin, ME Chamberlin, NE Braverman, R Surtees, S Hazelwood, S. H. Mudd, SH Mudd, SH Mudd, SH Mudd, SH Mudd, SP Stabler, SZ Kim, T Ubagai, WA Gahl, Y Chien   +31 more
core   +1 more source