Results 61 to 70 of about 4,864,231 (177)
JIMD Reports, Volume 66, Issue 5, September 2025.ABSTRACT We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation. Our patient presented with neonatal sensorineural hearing loss.
Riya Mary Tharakan +2 more
wiley +1 more source
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
, 1997 Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an ...
Besley, G. T. +21 more
core +1 more source
Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.Abstract INTRODUCTION Elevated total homocysteine (tHcy) is a major predictor of brain atrophy, cognitive decline, and Alzheimer's disease (AD) progression. The VITACOG trial, a randomized, placebo‐controlled study in mild cognitive impairment (MCI), previously showed that B vitamin supplementation lowered tHcy, slowing brain atrophy and cognitive ...
Tereza Kacerova +15 more
wiley +1 more source
, 1987 Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia.
Scotto, J. M. +9 more
core +1 more source
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley +1 more source
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience
Clinical Case Reports, Volume 13, Issue 2, February 2025.ABSTRACT Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose‐1‐phosphate‐uridyltransferase deficiency. We report on a case of an infant who was admitted with poor feeding, lethargy, and poor weight gain.
Mohammadreza Alaee +4 more
wiley +1 more source
Phenotype of adult Refsum disease due to a defect in peroxin 7
, 2007 The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect.
Moser, H. +8 more
core +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Refsum Disease - A Case with Oligosymptomatic Presentation
, 1996 Refsum disease (heredopathia atactica polyneuritiformis) is a rare recessively inherited disease affecting phytanic acid metabolism. It causes retinitis pigmentosa (RP), cataracts, anosmia, chronic polyneuropathy, cerebellar ataxia among other ...
Maja Steinlin; G. Niemeyer; R. J. A. Wanders; R. B. H. Schutgens; E. Boltshauser
core
A Case With Renal Failure, Hearing Loss and Double Ureters
Turkish Journal of Nephrology, 2019 In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR +6 more
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