Personalized Genome-Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients. [PDF]
J Inherit Metab DisHeinken A +5 more
europepmc +1 more source
Imerslund-Gräsbeck syndrome presenting with a 12-year history of intermittent proteinuria and anemia: a case from the Middle East. [PDF]
BMC PediatrMakrooni R +3 more
europepmc +1 more source
Repression of bacterial gene expression by antivitamin B<sub>12</sub> binding to a cobalamin riboswitch. [PDF]
RSC Chem BiolWidner FJ +5 more
europepmc +1 more source
Combined Pulmonary Hypertension and Renal Thrombotic Microangiopathy in Cobalamin C Deficiency
Pediatrics, 2013 Pulmonary arterial hypertension (PAH) and renal thrombotic microangiopathy (rTMA) are rare diseases in childhood, frequently leading to death and end-stage renal disease, respectively. Their combined occurrence has been reported anecdotally. We investigated the clinical, biochemical, and genetic aspects of 5 children with the rare combination of PAH ...
Martin Kömhoff +6 more
openalex +4 more sources
Neuropediatrics, 2001 The early onset type of cobalamin (Cbl) C/D deficiency is characterised by feeding difficulties, failure to thrive, hypotonia, seizures, microcephaly and developmental delay. It has an unfavourable outcome, often with early death and significant neurological impairment in survivors. While clinical and biochemical features of Cbl C/D deficiency are well
Roberta Biancheri +7 more
openalex +4 more sources
Adult-Onset Eculizumab-Resistant Hemolytic Uremic Syndrome Associated With Cobalamin C Deficiency
American Journal of Kidney Diseases, 2013 A 20-year-old man was hospitalized for malignant hypertension, mechanical hemolysis, and kidney failure. Kidney biopsy confirmed glomerular and arteriolar thrombotic microangiopathy. Etiologic analyses, which included ADAMTS13 activity, stool culture, complement factor proteins (C3, C4, factor H, factor I, and MCP [membrane cofactor protein]), anti ...
Émilie Cornec-Le Gall +7 more
openalex +4 more sources
Nephron, 2019 The most common disorder of vitamin B12 metabolism is methylmalonic aciduria and homocystinuria type cobalamin C (cblC), which accounts for most of the cases is referred to as cblC deficiency. Cobalamin deficiency is one of the causes of early-onset hemolytic uremic syndrome (HUS).
Rezan Topaloğlu +5 more
openalex +3 more sources
A Treatable Metabolic Cause of Encephalopathy: Cobalamin C Deficiency in an 8-Year-Old Male
Pediatrics, 2014 Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed by seizures.
Jena M. Krueger +5 more
openalex +3 more sources
Cutaneous manifestations of cobalamin C deficiency
Journal of the American Academy of Dermatology, 2011 openalex +2 more sources
Related searches:
Cobalamin C deficiency complicated by an atypical glomerulopathy
Pediatric Nephrology, 2002Cobalamin C (cbl C) deficiency, an inherited disorder of vitamin B12 metabolism, causes elevated levels of methylmalonic acid and homocysteine and decreased methionine in all body fluids. Renal complications of cbl C disease are thrombotic microangiopathy (TMA), chronic renal failure, tubulointerstitial nephritis and proximal renal tubular acidosis ...
Steven M, Brunelli +4 more
openaire +2 more sources