Results 51 to 60 of about 41,808 (221)
BMC Nephrology, 2021 Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan +5 more
doaj +1 more source
Psychogenic polydipsia in dogs – a review of pathogenesis, diagnosis and treatment
Journal of Small Animal Practice, EarlyView.Polyuria and polydipsia represent a common clinical presentation in dogs and may result from numerous disorders affecting different body systems. Compulsive water consumption is characteristic of psychogenic polydipsia, a primary polydipsia disorder rooted in neurologic, behavioural or environmental factors.
G. Pavlovsky
wiley +1 more source
Fanconi syndrome with lysinuric protein intolerance
, 2014 We present the case of a 9-year-old child with lysinuric protein intolerance and Fanconi syndrome. She was referred to our hospital with a persistent metabolic acidosis and polyuria. Renal investigations revealed all laboratory signs of Fanconi syndrome,
PISANI, ANTONIO, RICCIO, ELEONORA
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Indian Journal of Endocrinology and Metabolism, 2011 Fanconi′s syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders.
Soumya Patra +5 more
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Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.ABSTRACT Background/Objectives Outcomes for pediatric relapsed/refractory (R/R) acute myeloid leukemia (AML) remain dismal. CPX‐351, a liposomal formulation of cytarabine and daunorubicin, may have less off‐target toxicities than traditional chemotherapies and has shown improved outcomes for adults with newly diagnosed therapy‐related AML.
Jonathan D. Bender +17 more
wiley +1 more source
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 It has largely been replaced by mismatched unrelated and family donors, facilitated by advances in transplant technologies, including post‐transplant cyclophosphamide to prevent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
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing [PDF]
, 2012 Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far.
Ameziane, N. +5 more
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Telomere length in inherited bone marrow failure syndromes
Haematologica, 2015 Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter +3 more
doaj +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
The boy with massive glucosuria [PDF]
, 2017 HBC 2201 INTERMEDIATE ACCOUNTING 1 SUPP ...
Amaryan, Gayane +4 more
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