Methylmalonic acid values in healthy Dutch children
Plasma methylmalonic acid (MMA) is a specific marker for functional cobalamin deficiency. This deficiency can give rise to non-specific but serious symptoms in childhood such as developmental delay, convulsions and failure to thrive and may even lead to irreversible neurological damage.To analyse plasma MMA concentrations in Dutch children and to ...
Hogeveen, M. +5 more
openaire +4 more sources
Cyclic β-glucans at the bacteria–host cells interphase: One sugar ring to rule them all [PDF]
Cyclic β‐1,2‐D‐glucans (CβG) are natural bionanopolymers present in the periplasmic space of many Proteobacteria. These molecules are sugar rings made of 17 to 25 D‐glucose units linked exclusively by β‐1,2‐glycosidic bonds.
Arce Gorvel, Vilma +4 more
core +1 more source
Comorbidity Patterns Between Hearing Loss and Symptomatic Dizziness in Middle‐Aged and Older Adults
ABSTRACT Objective To explore the comorbidity patterns between hearing loss and symptomatic dizziness (HL‐SD) in middle‐aged and older adults. Methods This cross‐sectional study used data from the 1999 to 2004 National Health and Nutrition Examination Survey (NHANES). After excluding incomplete data, 2961 participants aged 40–69 were analyzed. Logistic
Chun‐Yan Liu +6 more
wiley +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held +2 more
doaj +1 more source
Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava +9 more
wiley +1 more source
Unexplained Elevated Vitamin B12: Consider Macro‐B12
ABSTRACT Introduction Elevated vitamin B12 concentration can be caused by supplementation, liver disease, kidney disease, or myeloid malignancies. Persistent, unexplained elevations of vitamin B12 can raise concern among patients and may lead to invasive diagnostic procedures, including bone marrow biopsy.
Evelien G. E. Hurkmans +3 more
wiley +1 more source
Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain [PDF]
Methylmalonic acidurias are biochemically characterized by an accumulation of methylmalonic acid and alternative metabolites. An impairment of energy metabolism plays a key role in the pathophysiology of this disease, resulting in neurodegeneration of the basal ganglia and renal failure.
Kolker, S. +9 more
openaire +6 more sources
Pitfalls in the diagnostic evaluation of subacute combined degeneration [PDF]
We report a case of a 43-year-old man presenting with a 2-week history of painless ascending sensory disturbances, suspected to be suffering from acute inflammatory polyneuropathy.
Linnebank, M +3 more
core +1 more source
Dietary management of normoalbuminaemic canine chronic enteropathies
Dietary management represents the cornerstone of treatment for chronic enteropathy in dogs, with approximately 50% of cases in referral practice responding to dietary intervention alone. Success rates improve significantly when multiple systematic diet trials are implemented.
A. Kathrani +7 more
wiley +1 more source

