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
Time Course of Renal Glutathione Levels in Experimental Fanconi Syndrome: An Enzyme-Based Approach [PDF]
, 1997 Jasmina Mimić-Oka, Tatjana Simić
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Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability [PDF]
, 2022 Moisés Ó. Fiesco-Roa +6 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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Hematopoietic Cell Transplantation for Acute Leukemia and Advanced Myelodysplastic Syndrome in Fanconi Anemia [PDF]
, 2013 Richard N. Mitchell +3 more
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Misdiagnosis of Bone Metastasis Cancer After Using Adefovir Dipivoxi in a Hepatitis B Patient with Fanconi Syndrome [PDF]
, 2015 Xin Li +5 more
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Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome [PDF]
, 2011 Mahua Roy +3 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
core
Pediatric Blood &Cancer, Volume 73, Issue 1, January 2026.
Karolina Miarka‐Walczyk +7 more
wiley +1 more source