Add to ORKGAdult-onset metachromatic leukodystrophy is often a diagnostic challenge to many clinicians. It may be presented with psychiatry symptom before other evidences of leukodystrophy are uncovered. We report a 53-year-old patient who presented with 7-year history of manic-like presentation in addition to progressive neurocognitive deterioration. Diagnosis was made eventually with neuroimaging. Mutational analysis showed compound heterozygous of ARSA gene. This case demonstrated the challenge in diagnosing this condition due to its complex neuropsychiatric presentation
Adult-onset Alexander’s disease is a rare leukodystrophy that can present later in life in a variety...
Metachromatic leukodystrophy (MLD), also called arylsulfatase A deficiency (ARS-A) which is a rare d...
Metachromatic leukodystrophy is an autosomal recessive neurodegenerative disorder that affects the c...
Adult-onset metachromatic leukodystrophy is often a diagnostic challenge to many clinicians. It may ...
Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosom...
Recently, Wu et al1 reported the case of an adult patient with late-onset cobalamin C disease who re...
Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination...
To better understand the molecular basis for adult type metachromatic leukodystrophy （MLD）, I have d...
Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage...
Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder resulting from the inherited...
BACKGROUND: P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic ...
Metachromatic leukodystrophy (MLD) is one of the genetically conditioned diseases of autosomal reces...
Leukodystrophy is a group of demyelinating neurodegenerative diseases of brain with varied presentat...
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused...
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused...
Adult-onset Alexander’s disease is a rare leukodystrophy that can present later in life in a variety...
Metachromatic leukodystrophy (MLD), also called arylsulfatase A deficiency (ARS-A) which is a rare d...
Metachromatic leukodystrophy is an autosomal recessive neurodegenerative disorder that affects the c...
Adult-onset metachromatic leukodystrophy is often a diagnostic challenge to many clinicians. It may ...
Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosom...
Recently, Wu et al1 reported the case of an adult patient with late-onset cobalamin C disease who re...
Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination...
To better understand the molecular basis for adult type metachromatic leukodystrophy （MLD）, I have d...
Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage...
Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder resulting from the inherited...
BACKGROUND: P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic ...
Metachromatic leukodystrophy (MLD) is one of the genetically conditioned diseases of autosomal reces...
Leukodystrophy is a group of demyelinating neurodegenerative diseases of brain with varied presentat...
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused...
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused...
Adult-onset Alexander’s disease is a rare leukodystrophy that can present later in life in a variety...
Metachromatic leukodystrophy (MLD), also called arylsulfatase A deficiency (ARS-A) which is a rare d...
Metachromatic leukodystrophy is an autosomal recessive neurodegenerative disorder that affects the c...