Works matching Homocystinuria

Results: 536

Homocistinuria: características clínicas de una cohorte y pautas de atención.

Published in:

Acta Pediatrica de Mexico, 2022, v. 43, n. 1, p. 4

By:

Guillén-López, Sara;
Vela-Amieva, Marcela;
Ibarra-González, Isabel;
Fernández-Lainez, Cynthia;
Belmont-Martínez, Leticia;
Itzel Carrillo-Nieto, Rosa;
López-Mejía, Lizbeth

Publication type:

Article

Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.

Published in:

Osteoporosis International, 2013, v. 24, n. 9, p. 2535, doi. 10.1007/s00198-013-2351-4

By:

Lim, J.;
Lee, D.

Publication type:

Article

Treatment of Homocystinuria-Related Dystonia with Deep Brain Stimulation: A Case Report.

Published in:

Stereotactic & Functional Neurosurgery, 2011, v. 89, n. 4, p. 210, doi. 10.1159/000325703

By:

Aydin, Sabri;
Abuzayed, Bashar;
Varlibas, Figen;
Apaydin, Hulya;
Mengi, Murat;
Kucukyuruk, Baris;
Hanimoglu, Hakan;
Yagci, Selin;
Kizilkilic, Osman;
Hanci, Murat

Publication type:

Article

Homocistinuria: informe de 2 pacientes.

Published in:

Boletín Médico del Hospital Infantil de México, 2006, v. 63, n. 5, p. 326

By:

Carbajal-Rodríguez, Luis;
Barrios-Fuentes, Rosalba;
Vela-Amieva, Marcela;
Rodríguez-Herrera, Raymundo;
Zarco-Román, Jorge

Publication type:

Article

Inaugural Cerebral Sinovenous Thrombosis Revealing Homocystinuria in a 2-Year-Old Boy.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 1, p. 107, doi. 10.1177/0883073813520502

By:

Saboul, Cécile;
Darteyre, Stéphane;
Ged, Cécile;
Fichtner, Christine;
Gay, Claire;
Stephan, Jean-Louis

Publication type:

Article

White Matter Changes in an Untreated, Newly Diagnosed Case of Classical Homocystinuria.

Published in:

2014

By:

Brenton, J. Nicholas;
Matsumoto, Julie A.;
Rust, Robert S.;
Wilson, William G.

Publication type:

Case Study

From Apneic Spells to the Development of Hypertensive Hydrocephalus: A Case Report of Homocystinuria With Early Onset.

Published in:

2010

By:

Cerbo, Rosa Maria;
Cabano, Rita;
Lombardi, Giuseppina;
Bollani, Lina;
Colombo, Roberto;
Stronati, Mauro

Publication type:

Case Study

Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: A Case Report of Nonclassical Homocystinuria.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 7, p. 823, doi. 10.1177/0883073808315410

By:

Bishop, Lisa;
Kanoff, Richard;
Charnas, Lawrence;
Krenzel, Charles;
Berry, Susan A.;
Schimmenti, Lisa A.

Publication type:

Article

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

By:

Shera, Tahleel Altaf;
Choh, Naseer Ahmed;
Shera, Faiz Altaf;
Khan, Azher Maqbool

Publication type:

Article

Homocystinuria and ocular complications - A review.

Published in:

2022

By:

Rahman, Mehzabeen;
Sharma, Mohita;
Aggarwal, Pragati;
Singla, Silkee;
Jain, Neha

Publication type:

journal article

Лечение с бетаин анхидрид при хомоцистинурия.

Published in:

Pediatria, 2021, v. 61, n. 2, p. 27

By:

Велева, Ц.;
Кадъм, А.;
Пачева, И.;
Делчев, Т.;
Чочкова, Л.;
Авджиева, Д.

Publication type:

Article

Molecular and biochemical investigations of inborn errors of metabolism-altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria.

Published in:

Free Radical Research, 2021, v. 55, n. 8, p. 859, doi. 10.1080/10715762.2021.1877286

By:

Ray, Suman Kumar;
Mukherjee, Sukhes

Publication type:

Article

Molecular and biochemical investigations of inborn errors of metabolism-altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria.

Published in:

Free Radical Research, 2021, v. 55, n. 6, p. 627, doi. 10.1080/10715762.2021.1877286

By:

Ray, Suman Kumar;
Mukherjee, Sukhes

Publication type:

Article

Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia.

Published in:

Journal of Pediatric Neurosciences, 2010, v. 5, n. 2, p. 129, doi. 10.4103/1817-1745.76110

By:

Bhardwaj, Parveen;
Sharma, Ravi;
Sharma, Minoo

Publication type:

Article

Classic homocystinuria and keratoconus: a case report.

Published in:

2018

By:

Ioschpe Gus, Patrícia;
Paseto Pilati, Natália;
Ossanai Schoenardie, Bruna;
Ruschel Marinho, Diane

Publication type:

Case Study

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

By:

Batycka, Małgorzata;
Lange, Ewa;
Ehmke vel Emczyńska-Seliga, Ewa;
Jaworski, Maciej;
Kobylińska, Maria;
Lech, Natalia;
Samborowska, Emilia;
Lipiński, Patryk;
Perkowska, Barbara;
Pokora, Paulina;
Rokicki, Dariusz

Publication type:

Article

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria.

Published in:

Biomedicines, 2025, v. 13, n. 4, p. 919, doi. 10.3390/biomedicines13040919

By:

Liu, Xin;
Liu, Xinhua;
Liu, Jinfeng;
Guo, Junhong;
Nie, Danyao;
Wang, Jiantao

Publication type:

Article

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein.

Published in:

Biomedicines, 2024, v. 12, n. 5, p. 929, doi. 10.3390/biomedicines12050929

By:

Al-Sadeq, Duaa W.;
Thanassoulas, Angelos;
Theodoridou, Maria;
Nasrallah, Gheyath K.;
Nomikos, Michail

Publication type:

Article

A case of homocystinuria: anesthetic implications.

Published in:

2014

By:

Krishan Gupta, Kewal;
Sethi, Sammer

Publication type:

Case Study

Oxidative Stress in Homocystinuria Due to Cystathionine ß-Synthase Deficiency: Findings in Patients and in Animal Models.

Published in:

Cellular & Molecular Neurobiology, 2017, v. 37, n. 8, p. 1477, doi. 10.1007/s10571-017-0478-0

By:

Faverzani, Jéssica;
Hammerschmidt, Tatiane;
Sitta, Angela;
Deon, Marion;
Wajner, Moacir;
Vargas, Carmen

Publication type:

Article

"My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03576-9

By:

Pokrzywinski, Robin;
Bartke, Danaé;
Clucas, Claudine;
Machuzak, Kathy;
Pinto, Lionel

Publication type:

Article

High clinical burden of classical homocystinuria in the United States: a retrospective analysis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03530-9

By:

Jain, Mahim;
Shah, Mehul;
Thakker, Kamlesh M.;
Rava, Andrew;
Pelts Block, Agnes;
Ndiba-Markey, Colette;
Pinto, Lionel

Publication type:

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

By:

Leopoldo, Garduño-Vieyra;
Bruno, Flores Escobar

Publication type:

Article

Homocistinurija u odraslih bolesnika - važnost ranog prepoznavanja u dječjoj i adolescentnoj dobi.

Published in:

Paediatria Croatica, 2014, v. 58, n. 3, p. 208, doi. 10.13112/pc.615

By:

Muačević-Katanec, Diana;
Merkler, Ana;
Fumić, Ksenija;
Barić, Ivo;
Merkler, Marijan;
Reiner, Željko

Publication type:

Article

An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.

Published in:

British Journal of Clinical Pharmacology, 2002, v. 54, n. 2, p. 140, doi. 10.1046/j.1365-2125.2002.01620.x

By:

Matthews, Angela;
Johnson, Trevor N.;
Rostami-Hodjegan, Amin;
Chakrapani, Anupam;
Wraith, J. Edward;
Moat, Stuart J.;
Bonham, James R.;
Tucker, Geoffrey T.

Publication type:

Article

Accumulation of pyroglutamic acid (5-oxoproline) in homocystinuria.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 1982, v. 42, n. 4, p. 361, doi. 10.1080/00365518209168098

By:

Stokke, Oddvar;
Marstein, Sverre;
Jellum, Egil;
Lie, Sverre O.

Publication type:

Article

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Published in:

2019

By:

Valayannopoulos, Vassili;
Dalmau, Jaime;
Peña-Quintana, Luis;
Rigalleau, Vincent;
Touati, Guy;
Aldamiz-Echevarria, Luis;
Cathebras, Pascal;
Gay, Claire;
Eyer, Didier;
Brunet, Dominique;
Damaj, Léna;
Dobbelaere, Dries;
Hiéronimus, Sylvie;
Levrat, Virginie;
Maillot, François;
Schiff, Manuel;
Guffon, Nathalie;
Nadjar, Yann;
García-Cazorla, Angels;
Martinez-Pardo Casanova, Mercedes

Publication type:

journal article

Combinación de acidemia metilmalónica y homocisteinuria; a propósito de un caso.

Published in:

2015

By:

Jiménez Varo, Ignacio;
Bueno Delgado, María;
Dios Fuentes, Elena;
Delgado Pecellin, Carmen;
González Meneses, Antonio;
Soto Moreno, Alfonso;
Venegas Moreno, Eva

Publication type:

Case Study

Homocistinuria; curso clínico y tratamiento dietético; a propósito de dos casos.

Published in:

Nutrición Hospitalaria, 2012, v. 27, n. 6, p. 2133, doi. 10.3305/nh.2012.27.6.6098

By:

Roldán, J. Olivar;
Martínez, A. Fernández;
Guardiola, P. Díaz;
Sancho, E. Martínez;
Gómez, J. Díaz;
Candela, C. Gómez

Publication type:

Article

Homocystinuria with Lower Gastrointestinal Bleeding: First Case Report.

Published in:

Medical Principles & Practice, 2013, v. 22, n. 5, p. 500, doi. 10.1159/000345639

By:

Al Humaidan, Mohammad;
Al Sharkawy, Ibrahim;
Al Sanae, Abdullah;
Al Refaee, Fawaz

Publication type:

Article

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1838

By:

Hwang, Narae;
Jang, Ja‐Hyun;
Cho, Eun‐Hae;
Choi, Rihwa;
Choi, Suk‐Joo;
Park, Hyung‐Doo

Publication type:

Article

Congenital cataract: An ocular manifestation of classical homocystinuria.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1742

By:

Saba, Neelam;
Irshad, Saba

Publication type:

Article

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1214

By:

Weber Hoss, Giovana R.;
Sperb‐Ludwig, Fernanda;
Schwartz, Ida V. D.;
Blom, Henk J.

Publication type:

Article

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 12, p. 648, doi. 10.1007/s10038-005-0312-2

By:

Sook-Jin Lee;
Dong Lee;
Han-Wook Yoo;
Soo Koo;
Eun-Sook Park;
Joo-Won Park;
Hun Lim;
Sung-Chul Jung

Publication type:

Article

The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.

Published in:

Saudi Medical Journal, 2021, v. 42, n. 2, p. 219, doi. 10.15537/smj.2021.2.25643

By:

AlAnzi, Talal;
Al Harbi, Fahad J.;
AlFaifi, Joharah;
Mohamed, Sarar

Publication type:

Article

Angiopathy and Stroke Associated with Homocystinuria in Childhood.

Published in:

Vascular & Endovascular Surgery, 2023, v. 57, n. 4, p. 417, doi. 10.1177/15385744221144978

By:

Demartini, Zeferino;
Furtado Neves, Pedro Juan;
Carmo, Andre Luis Santos do;
Antoniuk, Sergio;
Bufara, Danielle Caldas;
Prestes, Ana Clarice Bartosievicz;
Rodrigues MD, Liara Bohnert;
Araujo, Laura Ziemba;
Cardoso-Demartini, Adriane

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

By:

Silao, Catherine Lynn T.;
Fabella, Terence Diane F.;
Rama, Kahlil Izza D.;
Estrada, Sylvia C.

Publication type:

Article

The Spectrum of Mutations of Homocystinuria in the MENA Region.

Published in:

Genes, 2020, v. 11, n. 3, p. 330, doi. 10.3390/genes11030330

By:

Al-Sadeq, Duaa W.;
Nasrallah, Gheyath K.

Publication type:

Article

Homosistinüriye Bağlı Bilateral İnternal Karotis Arter Oklüzyonu: Olgu Sunumu.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2011, v. 17, n. 2, p. 106

By:

Demiray, Derya Yavuz;
Albayram, Sait;
Yalınkaya, Cengiz;
Haşıloğlu, Zehra

Publication type:

Article

Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients.

Published in:

Iranian Journal of Child Neurology, 2015, v. 9, n. 1, p. 94

By:

KARIMZADEH, Parvaneh;
JAFARI, Narjes;
ALAI, MohammadReza;
JABBEHDARI, Sayena;
NEJAD BIGLARI, Habibeh

Publication type:

Article

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 563, doi. 10.1111/j.1399-0004.2011.01690.x

By:

Zaidi, SHE;
Faiyaz-Ul-Haque, M;
Shuaib, T;
Balobaid, A;
Rahbeeni, Z;
Abalkhail, H;
Al-Abdullatif, A;
Al-Hassnan, Z;
Peltekova, I;
Al-Owain, M

Publication type:

Article

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 441, doi. 10.1111/j.1399-0004.2010.01391.x

By:

Urreizti, R.;
Moya-García, A. A.;
Pino-Ángeles, A.;
Cozar, M.;
Langkilde, A.;
Fanhoe, U.;
Esteves, C.;
Arribas, J.;
Vilaseca, M. A.;
Pérez-Dueñas, B.;
Pineda, M.;
González, V.;
Artuch, R.;
Baldellou, A.;
Vilarinho, L.;
Fowler, B.;
Ribes, A.;
Sánchez-Jiménez, F.;
Grinberg, D.;
Balcells, S.

Publication type:

Article

Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC).

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00197-2

By:

Waheed, Nadia;
Fayyaz, Zafar;
Imran, Ahmad

Publication type:

Article

Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC)

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00197-2

By:

Waheed, Nadia;
Fayyaz, Zafar;
Imran, Ahmad

Publication type:

Article

Osteoporoz Nedeniyle Başvuran ve Homosistinüri Tanısı Alan İki Kardeş: Olgu Sunumu.

Published in:

Turkish Journal of Physical Medicine & Rehabilitation / Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi, 2013, v. 59, n. 1, p. 76, doi. 10.4274/tftr.30643

By:

Bakan, Betül;
Kalender, Ali Murat;
Çİftsüren, Mehmet;
Kılıç, Metin

Publication type:

Article

Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2024, v. 43, n. 6, p. 517, doi. 10.1080/15257770.2023.2280013

By:

Khalil, Adila;
Khan, Haq Nawaz;
Wasim, Muhammad;
Ayesha, Hina;
Awan, Fazli Rabbi

Publication type:

Article

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01408-4

By:

Lu, Yitong;
Zhao, Shaozhi;
He, Xiaohui;
Yang, Hua;
Wang, Xiaolei;
Miao, Chen;
Liu, Hongwei;
Zhang, Xinwen

Publication type:

Article

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01408-4

By:

Lu, Yitong;
Zhao, Shaozhi;
He, Xiaohui;
Yang, Hua;
Wang, Xiaolei;
Miao, Chen;
Liu, Hongwei;
Zhang, Xinwen

Publication type:

Article

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0666-x

By:

Hu, Shuang;
Mei, Shiyue;
Liu, Ning;
Kong, Xiangdong

Publication type:

Article

Liver transplantation for a patient with homocystinuria.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 7, p. E311, doi. 10.1111/j.1399-3046.2012.01666.x

By:

Lin, Niang-Cheng;
Niu, Dau-Min;
Loong, Che-Chuan;
Hsia, Cheng-Yuan;
Tsai, Hsin-Lin;
Yeh, Yi-Chen;
Tsou, Mei-Yung;
Liu, Chin-Su

Publication type:

Article