Works matching DE "HOMOCYSTINURIA"

Results: 97

Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.

Published in:

Amino Acids, 2012, v. 42, n. 5, p. 1765, doi. 10.1007/s00726-011-0892-4

By:

Kanzelmeyer, Nele;
Tsikas, Dimitrios;
Chobanyan-Jürgens, Kristine;
Beckmann, Bibiana;
Vaske, Bernhard;
Illsinger, Sabine;
Das, Anibh;
Lücke, Thomas

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

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

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

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1707, doi. 10.1007/s00431-014-2330-6

By:

Gündüz, Mehmet;
Ekici, Filiz;
Özaydın, Eda;
Ceylaner, Serdar;
Perez, Belen

Publication type:

Article

A High-Fat Diet Induces Epigenetic 1-Carbon Metabolism, Homocystinuria, and Renal-Dependent HFpEF.

Published in:

Nutrients, 2025, v. 17, n. 2, p. 216, doi. 10.3390/nu17020216

By:

Tyagi, Suresh C.

Publication type:

Article

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

By:

Boyle, Fiona;
Lynch, Gary;
Reynolds, Clare M.;
Green, Adam;
Parr, Gemma;
Howard, Caoimhe;
Knerr, Ina;
Rice, Jane

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

By:

González-Lamuño, Domingo;
Arrieta-Blanco, Francisco Jesús;
Fuentes, Elena Dios;
Forga-Visa, María Teresa;
Morales-Conejo, Monstserrat;
Peña-Quintana, Luis;
Vitoria-Miñana, Isidro

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

By:

Vitoria-Miñana, Isidro;
Couce, María-Luz;
González-Lamuño, Domingo;
García-Peris, Mónica;
Correcher-Medina, Patricia

Publication type:

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

By:

Schnabel, Elena;
Kölker, Stefan;
Gleich, Florian;
Feyh, Patrik;
Hörster, Friederike;
Haas, Dorothea;
Fang-Hoffmann, Junmin;
Morath, Marina;
Gramer, Gwendolyn;
Röschinger, Wulf;
Garbade, Sven F.;
Hoffmann, Georg F.;
Okun, Jürgen G.;
Mütze, Ulrike

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

By:

Uygur, Esma;
Aktuglu-Zeybek, Cigdem;
Aghalarov, Mirsaid;
Cansever, Mehmet Serif;
Kıykım, Ertugrul;
Zubarioglu, Tanyel

Publication type:

Article

Bilateral Transient Pupil Closure after Iris Supported Intraocular Lens Implantation in a Case with Marfan Syndrome.

Published in:

2012

By:

Kara, Necip;
Bozkurt, Ercüment;
Yazici, Ahmet T.;
Demirok, Ahmet

Publication type:

Case Study

Evaluation of tracer labelled methionine load test in vitamin B-12 deficient adolescent women.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0196970

By:

Bhat, Dattatray S.;
Gruca, Lourdes L.;
Bennett, Carole D.;
Katre, Prachi;
Kurpad, Anura V.;
Yajnik, Chittaranjan S.;
Kalhan, Satish C.

Publication type:

Article

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

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.

Published in:

Cellular & Molecular Neurobiology, 2015, v. 35, n. 6, p. 899, doi. 10.1007/s10571-015-0185-7

By:

Vanzin, Camila;
Mescka, Caroline;
Donida, Bruna;
Hammerschimidt, Tatiane;
Ribas, Graziela;
Kolling, Janaína;
Scherer, Emilene;
Vilarinho, Laura;
Nogueira, Célia;
Coitinho, Adriana;
Wajner, Moacir;
Wyse, Angela;
Vargas, Carmen

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

Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.

Published in:

2019

By:

Yang, Chia-Feng;
Niu, Dau-Ming;
Chu, Tzu-Hung;
Hu, Rey-Heng;
Ho, Ming-Chih;
Chien, Yin-Hsiu;
Hwu, Wuh-Liang;
Lee, Ni-Chung;
Lin, Shuan-Pei;
Lin, Hsiang-Yu;
Liao, Hsuan-Chieh;
Chiang, Chuan-Chi;
Ho, Huey-Jane;
Lai, Chih-Jou;
Lin, Niang-Cheng;
Liu, Chin-Su

Publication type:

journal 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

Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.

Published in:

2001

By:

Ishida, S;
Isotani, H;
Furukawa, K;
Kuhara, T

Publication type:

Case Study

Homocistinuria: diagnóstico diferencial de talla alta sindrómica. A propósito de un caso.

Published in:

Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2024, v. 11, n. 1, p. 34, doi. 10.24875/RME.23000004

By:

GALLEGO-BETANCOURT, BIBIANA M.;
GÓMEZ-DE LA ROSA, RICHARD J.;
MEJÍA-DE BELDJENNA, LILIANA

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

By:

Chertok, V.;
Kotsyuba, A.

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

TEACHING FILE.

Published in:

2016

By:

Shah, Ira

Publication type:

Case Study

Skeletal abnormalities in homocystinuria.

Published in:

1977

By:

Brenton, D. P.

Publication type:

journal article

Autism and inborn errors of metabolism: how much is enough?

Published in:

Developmental Medicine & Child Neurology, 2015, v. 57, n. 9, p. 788, doi. 10.1111/dmcn.12771

By:

Asato, Miya R;
Goldstein, Amy C;
Schiff, Manuel

Publication type:

Article

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.

Published in:

2019

By:

Grandone, Elvira;
Martinelli, Pasquale;
Villani, Michela;
Vecchione, Gennaro;
Fischetti, Lucia;
Leccese, Angelica;
Santacroce, Rosa;
Corso, Gaetano;
Margaglione, Maurizio

Publication type:

journal article

The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review.

Published in:

Journal of Pediatrics Review, 2021, v. 9, n. 2, p. 137, doi. 10.32598/jpr.9.2.584.1

By:

Medghalchi, Abdolreza;
Rad, Afagh Hassanzadeh;
Dalili, Setila

Publication type:

Article

Cooccurrence of Postural Orthostatic Tachycardia Syndrome with Two Different Clinical Entities.

Published in:

2016

By:

Oztunc, Funda;
Ugan Atik, Sezen;
Dedeoglu, Reyhan;
Erbek Alp, Firuze;
Gokalp, Selman

Publication type:

Case Study

Pulmonary and Cerebral Infarcts Due to Secondary Thrombosis Risk of a Genetic Mutation: Life-threating Methylentetrahydrofolate Reductase (MTHFR) Deficiency with Early Onset.

Published in:

Acta Medica Marisiensis, 2016, v. 62, n. 2, p. 269, doi. 10.1515/amma-2016-0026

By:

Ianosi, Edith Simona;
Simona, Szasz;
Nemes, Roxana;
Jimborean, Gabriela

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

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

By:

Bills, Tammy;
Davis-Keppen, Laura;
Meyer, Lauritz;
Whalen, Lesta

Publication type:

Article

Assessment of immune function in Down syndrome patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 3, p. 307, doi. 10.1016/j.ejmhg.2013.05.003

By:

Abdel-Salam, Ekram;
Abdel-Meguid, Iman;
Korraa, Soheir

Publication type:

Article

The association between the 844ins68 polymorphism in the CBS gene and breast cancer.

Published in:

Archives of Medical Science, 2014, v. 10, n. 6, p. 1214, doi. 10.5114/aoms.2014.47830

By:

Gallegos-Arreola, Martha Patricia;
Figuera-Villanueva, Luis Eduardo;
Ramos-Silva, Adriana;
Salas-González, Efraín;
Puebla-Pérez, Ana María;
Peralta-Leal, Valeria;
García-Ortiz, José Elías;
Dávalos-Rodríguez, Ingrid Patricia;
Zúñiga-González, Guillermo Moisés

Publication type:

Article

Headache, oestrogens, homocysteinaemia and cerebral venous thrombosis.

Published in:

2016

By:

Lo, Y.-C.;
Tsai, J.-L.;
Tsai, I.-T.;
Hsu, C.-W.

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

By:

Mayfield, Jacob A.;
Davies, Meara W.;
Dimster-Denk, Dago;
Pleskac, Nick;
McCarthy, Sean;
Boydston, Elizabeth A.;
Fink, Logan;
Xin Xin Lin;
Narain, Ankur S.;
Meighan, Michael;
Rine, Jasper

Publication type:

Article

Late‐onset 5,10‐methylenetetrahydrofolate reductase deficiency with subacute disturbance of consciousness.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15720

By:

Miura, Maki;
Nishijima, Haruo;
Suzuki, Chieko;
Tomiyama, Masahiko

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

By:

Adrovic, Amra;
Canpolat, Nur;
Caliskan, Salim;
Sever, Lale;
Kıykım, Ertugrul;
Agbas, Ayse;
Baumgartner, Matthias R

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

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

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

By:

Yekeduz, Merve;
Unal Ince, Elif;
Ileri, Talia;
Ertem, Mehmet;
Eminoglu, Fatma

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

By:

Mahale, Rohan R.;
Mehta, Anish;
Rau, T.;
Acharya, Purushottam;
Srinivasa, Rangasetty

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

By:

Kılıç, Mustafa;
Özgül, Riza Köksal;
Dursun, Ali;
Tokatlı, Aysegül;
Kalkanoğlu-Sivri, Hatice Serap;
Anlar, Banu;
Fowler, Brian;
Coskun, Turgay

Publication type:

Article

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

Published in:

Turkish Journal of Pediatrics, 2013, v. 55, n. 6, p. 633

By:

Kılıç, Mustafa;
Köksal Özgül, Rıza;
Dursun, Ali;
Tokatlı, Ayşegül;
Serap Kalkanoğlu-Sivri, Hatice;
Anlar, Banu;
Fowler, Brian;
Coşkun, Turgay

Publication type:

Article

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

<italic>CBS</italic> 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. 2, p. 160, doi. 10.1002/mgg3.342

By:

Poloni, Soraia;
Sperb‐Ludwig, Fernanda;
Borsatto, Taciane;
Weber Hoss, Giovana;
Doriqui, Maria Juliana R.;
Embiruçu, Emília K.;
Boa‐Sorte, Ney;
Marques, Charles;
Kim, Chong A.;
Fischinger Moura de Souza, Carolina;
Rocha, Helio;
Ribeiro, Marcia;
Steiner, Carlos E.;
Moreno, Carolina A.;
Bernardi, Pricila;
Valadares, Eugenia;
Artigalas, Osvaldo;
Carvalho, Gerson;
Wanderley, Hector Y. C.;
Kugele, Johanna

Publication type:

Article

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73475-5

By:

Kaur, Rajdeep;
Attri, Savita V.;
Saini, Arushi G.;
Sankhyan, Naveen;
Singh, Satwinder;
Faruq, Mohammed;
Ramprasad, V. L.;
Sharda, Sheetal;
Murugan, Sakthivel

Publication type:

Article

A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71471-3

By:

Zeng, Qiandong;
Leach, Natalia T.;
Zhou, Zhaoqing;
Zhu, Hui;
Smith, Jean A.;
Rosenblum, Lynne S.;
Kenyon, Angela;
Heim, Ruth A.;
Eisenberg, Marcia;
Letovsky, Stanley;
Okamoto, Patricia M.

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

By:

Zhang, Chuan;
Wang, Xing;
Hao, Shengju;
Zhang, Qinghua;
Zheng, Lei;
Zhou, Bingbo;
Liu, Furong;
Feng, Xuan;
Chen, Xue;
Ma, Panpan;
Chen, Cuixia;
Cao, Zongfu;
Ma, Xu

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

By:

Sikora, Marta;
Lewandowska, Izabela;
Marczak, Łukasz;
Bretes, Ewa;
Jakubowski, Hieronim

Publication type:

Article

Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

Published in:

Biology (2079-7737), 2015, v. 4, n. 2, p. 383, doi. 10.3390/biology4020383

By:

Poloni, Soraia;
Blom, Henk J.;
Schwartz, Ida V. D.

Publication type:

Article