Results 71 to 80 of about 31,105 (207)
Haematologica, 2010 Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary +20 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT Dyskeratosis congenita (DC) is a rare telomere biology disorder characterized by mucocutaneous abnormalities and progressive bone marrow failure. We report a 10‐year‐old boy with a hemizygous DKC1 c.1058C > T (p.Ala353Val) variant who presented with unusually early mucocutaneous findings, including oral leukoplakia at 2 years of age, followed ...
Harun Kasapoğlu +4 more
wiley +1 more source
The role of mitochondria in the renal Fanconi syndrome
, 2010 Clinically, the renal proximal tubule (PT) seems to be vulnerable to mitochondrial dysfunction (MD), which can affect normal transport processes (including reabsorption of low molecular weight proteins [LMWPs]), resulting in the renal Fanconi syndrome.
Hall, A.
core
Fanconi Syndrome Criteria of Cases at Presentation.
, 2014 Abbreviations: IQR, interquartile range; TDF, tenofovir disoproxil fumarate; CrCl, creatinine clearance; FS, Fanconi syndrome; ERC, external review committee.an = 14 as 5 pre-TDF CrCl values were not available.
Todd Fralich (540202) +10 more
core +1 more source
Systemic lupus erythematosus complicated with Fanconi syndrome: a case report and literature review
Frontiers in PediatricsBackgroundSystemic lupus erythematosus is an autoimmune disease with diverse clinical manifestations. The symptoms of SLE in children are more atypical than adults. Childhood SLE complicated with Fanconi syndrome is extremely rare and even more difficult
Lili Lou +4 more
doaj +1 more source
Type I glycogenosis with renal tubular dysfunction (presentation of two cases)
The Turkish Journal of Pediatrics, 1993 Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch.
A Yüce +5 more
doaj
Don't Cut the Cord: Why Umbilical Cord Blood Still Deserves a Place in Transplantation
International Journal of Immunogenetics, Volume 53, Issue 3, Page 229-239, June 2026.ABSTRACT The use of umbilical cord blood (UCB) as a stem cell source in haematopoietic stem cell transplant (HSCT) has greatly declined in recent years. It has largely been replaced by mismatched unrelated and family donors, facilitated by advances in transplant technologies, including post‐transplant cyclophosphamide to prevent graft‐versus‐host ...
Jenna Nunn, Kay Poulton, Robert Wynn
wiley +1 more source
Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome
, 2007 The renal Fanconi syndrome is a defect of proximal tubular function causing amino-aciduria and low- molecular- weight proteinuria. Dent's disease and Lowe syndrome are defined X- linked forms of Fanconi syndrome; there is also an autosomal dominant ...
CUTILLAS PR +8 more
core +1 more source
Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld +6 more
wiley +1 more source
Urinary L-lactate excretion is increased in renal Fanconi syndrome
, 2004 Background. Measurement Of L-lactate in body fluids is an established clinical tool to identify disorders of cellular respiration. However, there is very little known about the clinical value of urinary lactate measurements.
Thewles, Andrew +6 more
core +1 more source