Results 21 to 30 of about 520 (140)

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children [PDF]

Frontiers in Pediatrics
ObjectiveTo report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to ...
Zhenzhen Chen, Landi Lai, Xiaomei Lu, Xiaomei Lu, Xiaomei Lu, Bomao Zhong, Bomao Zhong, Bomao Zhong, Qi Peng, Qi Peng, Qi Peng, Ziqiang Liu   +11 more
doaj   +2 more sources

Mental retardation associated with Brown-Vialetto-Van Laere syndromeSirs

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2003
(2003). Mental retardation associated with Brown‐Vialetto‐Van Laere syndromeSirs. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders: Vol. 4, No. 1, pp. 52-53.
Filiz Koç A., Bozdemir H., Sarica Y.
core   +5 more sources

Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome.

J Pediatr Neurosci, 2018
Brown-Vialetto-Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio-Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporter genes.
Garg M, Kulkarni SD, Hegde AU, Shah KN.
europepmc   +4 more sources

Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency [PDF]

Brain Sciences, 2022
(1) Background: Riboflavin transporter deficiency (RTD), formerly known as Brown–Vialetto–Van Laere syndrome, is a rare condition that causes a progressive neurological syndrome in early life with features of auditory and optic neuropathy, weakness of ...
Lin Zhang, Dominic Thyagarajan
doaj   +2 more sources

Thirteen‐month‐old girl with hyporegenerative macrocytic anemia due to Brown–Vialetto–Van Laere syndrome 2

American Journal of Hematology, Volume 97, Issue 11, Page 1495-1496, November 2022., 2022
We diagnosed a 13‐month‐old girl with severe neurological deficits and hyporegenerative macrocytic anemiawith Brown–Vialetto–Van Laere syndrome type 2 (BVVL 2), a rare disorder of the riboflavin transporter, caused by variants in the SLC52A2 gene.
Nibras Naami, Arndt Borkhardt, Ayami Yoshimi, Lev Grinstein, Gabriele Escherich   +4 more
wiley   +2 more sources

Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. [PDF]

Neurology, 2018
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare, progressive neurodegenerative disease with fewer than 100 cases reported in the literature. It is characterized by pontobulbar palsy and sensorineural hearing loss.1 The age at onset varies from infancy to early adulthood, commonly presenting with cranial nerve VII–XII palsies and deafness.
Bamaga AK, Maamari RN, Culican SM, Shinawi M, Golumbek PT.   +4 more
europepmc   +4 more sources

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome [PDF]

Journal of the Neurological Sciences, 2013
Introduction Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India.
Atchayaram Nalini, Kin Y Mok, Henry Houlden   +2 more
exaly   +3 more sources

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy [PDF]

Metabolites
Background/Objective: Riboflavin transporter deficiency (RTD) is a rare neurodegenerative disease, with under 500 cases genetically confirmed since the early 2000s.
Justyna Paprocka, Julia Karpierz, Michał Hutny, Jagoda Hofman-Hutna, Artur Dobosz   +4 more
doaj   +2 more sources

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Orphanet Journal of Rare Diseases, 2012
The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity.
Bosch Annet M, Stroek Kevin, Abeling Nico G, Waterham Hans R, IJlst Lodewijk, Wanders Ronald JA   +5 more
doaj   +2 more sources

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene [PDF]

Molecular Genetics and Metabolism Reports
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and ...
Elizabeth S. Tranel, Bridget McGowan, Andy Drackley, Leon G. Epstein, Vamshi K. Rao, Nancy L. Kuntz, Abigail N. Schwaede   +6 more
doaj   +2 more sources