A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome
The Turkish Journal of Pediatrics, 2009 Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation ...
Enver Simşek +4 more
doaj
Physiology of renal glucose handling via SGLT1, SGLT2 and GLUT2. [PDF]
, 2018 The concentration of glucose in plasma is held within narrow limits (4-10 mmol/l), primarily to ensure fuel supply to the brain. Kidneys play a role in glucose homeostasis in the body by ensuring that glucose is not lost in the urine.
Ghezzi, Chiara +2 more
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Chromosomal instability syndromes are sensitive to poly ADP-ribose polymerase inhibitors
Haematologica, 2008 Poly ADP-ribose polymerase inhibitors have been shown to target cells with homologous recombination DNA repair defects. We report that poly ADP-ribose polymerase inhibitors induces apoptosis in cells deficient in other key DNA repair components ...
Terry J. Gaymes +3 more
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Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome [PDF]
, 2016 Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome.
Bottega, Roberta +12 more
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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 +6 more
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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 +3 more
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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
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BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]
, 2019 BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir +2 more
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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 +8 more
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Progressive myoclonic epilepsy with Fanconi syndrome
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex ...
Andreoletti, Gaia +5 more
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