Cargando…

Abetalipoproteinemia: two case reports and literature review

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, pos...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zamel, Rola, Khan, Razi, Pollex, Rebecca L, Hegele, Robert A
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467409/ https://www.ncbi.nlm.nih.gov/pubmed/18611256 http://dx.doi.org/10.1186/1750-1172-3-19

Ejemplares similares

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings
por: Vlasschaert, Caitlyn, et al.
Publicado: (2021)

Successful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF)
por: Ueda, Masako, et al.
Publicado: (2021)

A Male Infant with Abetalipoproteinemia: A Case Report from Iran
por: Rashtian, Parisa, et al.
Publicado: (2015)

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
por: Soylu Ustkoyuncu, Pembe, et al.
Publicado: (2020)

Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
por: Mammis, Antonios, et al.
Publicado: (2012)

Current Diagnosis and Management of Abetalipoproteinemia
por: Takahashi, Manabu, et al.
Publicado: (2021)

Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia
por: Nagappa, Madhu, et al.
Publicado: (2014)

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
por: Acar, Sezer
Publicado: (2020)

Alstrom syndrome (OMIM 203800): a case report and literature review
por: Joy, Tisha, et al.
Publicado: (2007)

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene
por: Najah, Mohamed, et al.
Publicado: (2013)

Malignant Phyllodes Tumor of the Breast with Metastasis to the Pancreas: A Case Report and Review of Literature
por: Amir, R. A., et al.
Publicado: (2018)

Pituitary stalk interruption syndrome: Case report of three cases with review of literature
por: Gutch, Manish, et al.
Publicado: (2014)

Chilblains in Southern California: two case reports and a review of the literature
por: Gordon, Rebecca, et al.
Publicado: (2014)

Genetic determinants of statin intolerance
por: Oh, Jisun, et al.
Publicado: (2007)

Epiphyseal Ewing Sarcoma in a skeletally mature patient: A case report and review of the literature
por: Husain, Rola, et al.
Publicado: (2021)

Carcinosarcoma of the breast: two case reports and review of the literature
por: Esses, Kristi M, et al.
Publicado: (2009)

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases
por: Rodríguez Gutiérrez, Perla Graciela, et al.
Publicado: (2020)

The Pathophysiology and Management of Coprophagia: A Report of Two Cases and Literature Review
por: Azizi, Heela, et al.
Publicado: (2018)

Anti-M: Report of two cases and review of literature
por: Tondon, Rashmi, et al.
Publicado: (2008)

Schwannoma of the tongue: two case reports and review of the literature
por: Cohen, Marc, et al.
Publicado: (2009)

Endobronchial Tuberculosis: Two Case Reports and Review of the Literature
por: Aneja, Anshum, et al.
Publicado: (2014)

Eosinophilic myocarditis: two case reports and review of the literature
por: Rizkallah, Jacques, et al.
Publicado: (2013)

Fetus in fetu: two case reports and literature review
por: Ji, Yi, et al.
Publicado: (2014)

Rhabdomyosarcoma of the breast: Report of two cases with the review of literature
por: Pareekutty, Nizamudheen M., et al.
Publicado: (2016)

Polyorchidism: two case reports and a review of the literature
por: Artul, Suheil, et al.
Publicado: (2014)

Zinner’s syndrome: report of two cases and review of the literature
por: Slaoui, Amine, et al.
Publicado: (2016)

Liposarcoma of the stomach: Report of two cases and review of the literature
por: Kang, Wen-Zhe, et al.
Publicado: (2018)

Caruncular Oncocytoma: Report of Two Cases with Review of Literature
por: Mitra, Suvradeep, et al.
Publicado: (2018)

Carney complex: Two case reports and review of literature
por: Li, Shuang, et al.
Publicado: (2018)

Riedel's Thyroiditis: Report of Two Cases and Literature Review
por: Blanco, Victor Manuel, et al.
Publicado: (2019)

Pituitary carcinoma: Two case reports and review of literature
por: Xu, Lai, et al.
Publicado: (2020)

Two case reports of chorea-acanthocytosis and review of literature
por: Huang, Shuangfeng, et al.
Publicado: (2022)

Multifocal glioblastoma—two case reports and literature review
por: Zhang, Zuo-Xin, et al.
Publicado: (2021)

Gastric schwannoma: Two case reports and review of the literature
por: Cordeiro, Rodrigo, et al.
Publicado: (2023)

Laryngocele: Report of two rare cases and review of the literature
por: Zhang, Jin, et al.
Publicado: (2023)

Postpartum chylothorax: Two case reports and literature review
por: Yan, Zhentao, et al.
Publicado: (2023)

Neurotoxicities associated with checkpoint inhibitors: Two case reports and a review of the literature
por: Cordes, Lisa M., et al.
Publicado: (2019)

Gastric Duplication Cyst: Two Case Reports and Review of the Literature
por: Singh, Jai P., et al.
Publicado: (2013)

MRI features of pyoderma gangrenosum in a diabetic patient with ulcerative colitis: A case report and review of the literature
por: Husain, Rola, et al.
Publicado: (2020)

Angiolymphoid hyperplasia with eosinophilia (epithelioid hemangioma) of the external auditory canal, an unusual presentation in an adult female: a case report
por: Hussain, Jumana A, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_f1j765c43bhada2b03v4vqd63k