Results 51 to 60 of about 1,177,821 (205)
Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome [PDF]
, 1989 Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome. We analyzed urinary constituents using GC/MS in 16 children with the renal Fanconi syndrome and 13 normal individuals.
Conley, Susan B. +5 more
core +1 more source
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
eJHaem, Volume 7, Issue 5, October 2026.ABSTRACT Fanconi anemia (FA) is a genetically heterogeneous disorder of chromosome instability leading to bone marrow failure (BMF) and other manifestations. We report a case of FA in which two atypical features initially obscured the diagnosis: the presence of T cell‐mediated thrombocytopenia, and somatic mosaicism leading to normal chromosome ...
Bridget T. Kiely, Alison A. Bertuch
wiley +1 more source
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
doaj +1 more source
Journal of Parenteral and Enteral Nutrition, Volume 50, Issue 7, Page 1040-1044, October 2026.Abstract Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin‐binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated ...
Hiroyuki Tanaka +5 more
wiley +1 more source
Fanconi, G. -- 1955-63 -- Correspondence, Individual -- letter, 1961-04-12
, 1961 Letter from Fanconi to Sabin, Albert B.
Fanconi, G.
core +1 more source
Prenatal Diagnosis, Volume 46, Issue 11, Page 1721-1731, October 2026.ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert +4 more
wiley +1 more source
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
Developmental stuttering with common and complex phenotypes
Developmental Medicine &Child Neurology, Volume 68, Issue 10, Page 1460-1475, October 2026.Abstract Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions).
Sarah E. Horton +6 more
wiley +1 more source
A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period
, 2019 Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal period.
Erkin Serdaroğlu +3 more
core +1 more source