Results 111 to 120 of about 2,262,684 (231)

A rare case of glycogen storage disease type XI fanconi-bickel syndrome

Journal of Pediatric Critical Care, 2016
Fanconi-Bickel syndrome (FBS) is an example of proximal Renal tubular dysfunction due to a single gene disorder, it is caused by defects in the facilitative glucose transporter 2 gene that codes for the glucose transporter protein 2 expressed in ...
Manisha Garg, Ashok Gupta, Priyanshu Mathur, Manish Sharma, Rajesh Kumar, Vikas Gupta, M Manjunath   +6 more
doaj   +1 more source

Cryoglobulinaemic vasculitis: classification and clinical and therapeutic aspects [PDF]

, 2007
Cryoglobulinaemia may cause cutaneous vasculitis and glomerulonephritis, potentially leading to end stage renal failure. An important proportion of cryoglobulinaemias are secondary to hepatitis C virus infection.
Braun, Gerald S., Horster, Sophia, Ihrler, Stephan, Schmid, Holger, Wagner, Katrin S.   +4 more
core   +2 more sources

Sjögren’s syndrome complicated with Fanconi syndrome and Hashimoto’s thyroiditis: Case report and literature review

Journal of International Medical Research, 2016
We report a unique case of Sjögren’s syndrome complicated with Fanconi syndrome and Hashimoto’s thyroiditis in a 53-year-old Chinese woman, initially found to have proteinuria, fatigue and multiple old costal fractures.
Min-Yen Shi, Lei Chen
semanticscholar   +1 more source

Modern Views on de Toni — Debre — Fanconi Syndrome: the Literature Data and Case Report

Zdorovʹe Rebenka, 2013
Introduction. In the article features of clinical course of de Toni — Debre — Fanconi disease (syndrome) in children of different age, depending on form of the disease are represented. The objective of investigation was to study clinical peculiarities of
I.S. Lembryk, S.I. Yakymiv, O.V. Lesyuk
doaj   +1 more source

Investigation of FANCA mutations in greek patients [PDF]

, 2013
Background: Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA ...
Fryssira, Elena, Kanavakis, Emmanouel, Kattamis, Antonis, Kitsiou, Sophia, Kolialexi, Aggeliki, Mavrou, Ariadni, Polychronopoulou, Sophia, Selenti, Nikoletta, Sofocleous, Christalena   +8 more
core  

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability [PDF]

, 2022
Moisés Ó. Fiesco-Roa, Benilde García‐de Teresa, Paula Leal-Anaya, Renée van ‘t Hek, Talia Wegman‐Ostrosky, Sara Frı́as, Alfredo Rodríguez   +6 more
openalex   +1 more source

Aplasias Medulares Congénitas [PDF]

, 2010
Las aplasias medulares congénitas constituyen un grupo heterogéneo de enfermedades que se caracterizan por insuficiencia medular, asociadas frecuentemente a una o más anomalías somáticas y con riesgo elevado de neoplasias.Son enfermedades raras ...
Almeida, T, Esteves, A, Freitas, O, Rosado, L   +3 more
core   +1 more source

Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease [PDF]

, 2020
Martin Poot
openalex   +1 more source

Microvillous inclusion disease as a cause of severe congenital diarrhea. Case report [PDF]

, 2017
Indexación: Scopus; Scielo.Introducción: Las diarreas congénitas son patologías graves de baja frecuencia y alta mortalidad. Se manifiestan durante los primeros días o meses de vida con severa diarrea, generando insuficiencia intestinal y dependencia de ...
Espinosa, R., González, I., González, R., Puchi, A., Schoen, K., Torres, M.T.   +5 more
core   +1 more source

Crystalline podocytopathy and tubulopathy without overt glomerular proteinuria in a patient with multiple myeloma

Kidney Research and Clinical Practice, 2016
Crystalline nephropathy is a rare yet well-known condition associated with multiple myeloma and other light chain–secreting disorders. Paraproteins that are resistant to proteolysis crystallize within proximal tubular cells and cause light-chain proximal
Eun Jeong Lee, Su Yeon Lee, So Young Park, Yonjin Kim, Jae Shin Choi, Mi Jeoung Kim, Ji Hyeon Park, Jung Eun Lee, Ghee Young Kwon, Yoon-Goo Kim   +9 more
doaj   +1 more source