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Differential
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abdominal cramps
acid maltase deficiency
acid maltase deficiency, adult
acral sensory symptoms
adrenoleukodystrophy
adrenomyeloneuropathy
agalsidase alfa
alpha glucosidase
aminoacidopathies
aminoacidurias
amniocentesis
angina pectoris
angiokeratoma
anhidrosis
anterior horn cell disease
anterior tibial muscle weakness
antiviral agents
Arnold Chiari malformation
arthropathy
arthropathy, neuropathic
arylsulfatase A
aspartate aminotransferase
aspiration
asymptomatic
ataxia
ataxia telangiectasia
ataxia, cerebellar
ataxia, progressive
athetosis
attention deficit disorder with hyperactivity
attention span
autonomic dysfunction
axonal spheroid
Babinski sign
basal ganglia, lesion of
basal ganglia, lesion, bilateral
basilar impression
behavioral disorder
blindness
blood dyscrasias, neurologic findings with
bone marrow biopsy
bone marrow transplantation
brain atrophy
brain biopsy
brain biopsy, complications of
brain biopsy, false negative
brain biopsy, indication
brainstem, infarction of
burning feet
burning feet, differential diagnosis of
burning hands
burning paresthesia
cardiomyopathy
CAT scan
CAT scan, abnormal
CAT scan, false negative
cataplexy
cataracts
cerebellar ataxia, children
cerebellar ataxia, children, differential diagnosis of
cerebellar infarction
cerebral cortical atrophy
cerebral ischemia
cerebrospinal fluid, gammaglobulin of
cerebrotendinous xanthomatosis
cerebrovascular accident
cerebrovascular accident, cryptogenic
cerebrovascular accident, familial occurrence
cerebrovascular accident, non atherosclerotic cause of
cerebrovascular accident, young adult
cerebrovascular disease
cerebrovascular disease, cardiovascular disease with
cherry red spot
cherry red spot-myoclonus syndrome
children
chorea
choreoathetosis
chromosomal abnormality
chronic graft versus host disease
Clinical Pathologic Conference(C.P.C.)
coagulopathy
cognition
complications
compression fracture
congestive heart failure
consanguinity
contractures, joint
cornea, abnormal
cornea, opacification in infancy-causes of
cornea, opacity of
corneal dystrophy
corpus callosum
corpus callosum, hypoplastic
corpus callosum, lesion of
creatine phosphokinase(CPK)elevated
creatinine, elevated
cry, abnormal
cultured skin fibroblasts
cystinosis
degenerative diseases of CNS
delay in diagnosis
dementia
dementia, childhood
dementia, diagnostic evaluation of
developmental disability
developmental milestones, loss of
developmental retardation
diarrhea
differential diagnosis
difficulty going down stairs
diplopia
distal muscle weakness
drooling
dropped head syndrome
dysarthria
dysmorphic
dysostosis multiplex
dysphagia
dystonia
dystonia, face
dystonia, focal
dystonic lipidosis
echocardiogram
efficacy
electroencephalogram
electroencephalogram, abnormalities of
electromyogram
electron microscopy
enzyme treatment
enzyme, defect
episodic disorders
episodic neurologic deficits
exercise intolerance
exome sequencing
eye movement, disorders of
Fabry's disease
facial appearance, abnormal
falling
familial
Farber's disease
fever
foam cells
fracture, pathologic
Friedreich's ataxia
fucosidosis
gait disorder
galactosidase
gangliosidosis GM1
gangliosidosis GM2
gargoylism
Gaucher's disease
gaze palsy
gaze palsy, supranuclear
gaze palsy, vertical
gene
gene mutation
gene therapy
genetic counselling
genetic diagnosis
genetic diagnosis, prenatal
genetic neurologic disorders
genetic screening
glucocerebrosidase
glycogen storage disease
glycoprotein
growth retardation
hand pain
head injury
hearing loss
heat intolerance
hemorrhagic diathesis
hepatic failure
hepatitis
hepatolenticular degeneration(Wilson's disease)
hepatomegaly
hepatosplenomegaly
hexosaminidase-A
hexosaminidase-A and B
high arched feet
Hurler's syndrome
hydrocephalus
hyperreflexia
hypertonia
hypohidrosis
hypomyelination
hypotonia
hypotonia, infants
inattention
inborn errors of metabolism
inborn errors of metabolism, screening
inclusion bodies, intracytopasmic
incoordination
infection, recurrent
intellectual deficit
intellectual deterioration
intelligence quotient
intrathecal medication
Jakob-Creutzfeldt disease
jaundice
Jewish
klippel feil syndrome
Krabbe's disease
kyphoscoliosis, neurologic causes of
lactic acidemia
lead poisoning
learning disability, in children
Leigh's disease
leukocyte enzyme abnormality
leukodystrophy
Lewy body disease, diffuse
life expectancy
lipid storage disorder of CNS
liver disease
lymphadenopathy
lysosomal storage disease
lysosomes, abnoral
macrocephaly
Marinesco-Sjogren syndrome
megalencephaly
memory, impairment of
meningitis, chronic
mental retardation
metabolic disorder, primary
metabolic disorder, primary-screening tests
metachromatic leukodystrophy
metachromatic leukodystrophy, adult onset
misdiagnosis
mitral valve prolapse
molecular genetics
mortality
motor neuron disease
movement disorder
movement disorder, extrapyramidal
MRI
MRI, abnormal
MRI, hypointense signal foci on
MRS
mucopolysaccharidoses
multiple sclerosis
multiple sclerosis, differential diagnosis of
muscle biopsy
muscle spasm
muscle wasting, diffuse
muscle weakness
muscular dystrophy, Duchenne
myelopathy
myocardial infarction
myoclonus
myopathy
N-acetyl-L-aspartic acid
neoplasm, primary of CNS
neuraminidase deficiency
neuroaxonal dystrophy
neuroaxonal dystrophy, infantile
neurofibrillary degeneration
neurolipidosis IV
neurologic complications of, systemic disease
neurologic disease
neurologic disease, diagnoses of
neurologic testing
neuronal ceroid-lipofuscinosis
neuroophthalmology
neuropathic pain scale
neuropathology
neuropathy
neuropathy, demyelinating
neuropathy, painful
neuropathy, small-fiber
neuropathy, small-fiber, painful sensory
neurosis
Niemann-Pick disease
ophthalmoplegia
optic atrophy
optokinetic nystagmus, abnormal
osteopetrosis
pain
pain, neuropathic
Parkinsonism syndrome
paroxysmal neurologic deficits
patient in waiting
pediatric neurology
peroxisomal disease
pes cavus
photophobia
polymerase chain reaction
polyneuropathy
Pompe's disease of glycogen storage
precipitating factors
preclinical
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
prognosis
progressive neurologic disorder
proteinuria
psychiatric problems in neurologic disorders
psychological testing
psychological testing, children
psychomotor retardation
psychosis
quadriparesis
quadriplegia
rectal biopsy
remote effect of cancer on the nervous system
renal failure
respiratory failure
respiratory tract infection
retinal degeneration
retinopathy
retropulsion
review article
rigidity
safety
Salla disease
Sandhoff's disease
schizophrenia
scoliosis, neurologic association with
screening
sea-blue histiocytes
seizure
seizure, children
seizure, laughing as manifestation
sensorineural hearing loss
short stature
sick sinus syndrome
skin, biopsy
skin, lesions in neurologic disorders
slit lamp examination
small vessel disease
spasticity
speech, delayed development of
sphingomyelin
spinal cord, compression of
spinocerebellar degeneration
splenomegaly
startle reaction
stem cell transplantation
subdural hematoma
systemic illness
tandem gait, ataxic
Tay-Sachs disease
thalamus, lesion of
thalamus, lesion of-bilateral
thrombocytopenia
toe walking
tone, muscle, increased
tongue, enlarged
treatment of neurologic disorder
tremor
tremor, intention
tripping
urea-cycle enzymopathies
urinary sulfatidase excretion
urine test for metabolic disorders
vasculopathy
ventricular enlargement
vertebral-basilar insufficiency
vertigo
vision, failure of in childhood
visual acuity, decreased
visual fields, constricted
visual loss
visual loss, transient
Von Hippel Lindau
walking, delayed
walking, difficulty with
weakness
weakness, proximal
white matter disease
wide based gait
Showing articles 0 to 50 of 148 Next >>

A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022

Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021

Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019

Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017

Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016

Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 971, Ropper, A.H.,et al, 2014

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011

Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
Lancet 374:1986-1996, 1950, Mehta,A.,et al, 2009

Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002

MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001

Enzyme Replacement Therapy in Fabry Disease
JAMA 285:2743-2749, Schiffmann,R.,et al, 2001

Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000

Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000

A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
Neurol 52:1668-1672, Varho,T.,et al, 1999

Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995

Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Evaluation of Cerebral Biopsies for the Diagnosis of Dementia
Arch Neurol 49:28-31, Hulette,C.M.,et al, 1992

NEurologic Complications of Nonneuronopathic Gaucher's Disease
Arch Neurol 48:1271-1272, Grewal,R.P.,et al, 1991

Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
NEJM 323:6-12, Triggs-Raine,B.L.,et al, 1990

Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990

Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
NEJM 320:1735-1740, Schindler,D.,et al, 1989

Neurologic Complications in Long-Standing Nephropathic Cystinosis
Arch Neurol 46:543-548, Fink,J.K.,et al, 1989

Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988

Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988

Nervous System Involvement in Fabry's Disease:Clinicopath & Biochemical Correlation
Ann Neurol 23:505-509, Kaye,E.M.,et al, 1988

Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988

Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
Lancet 2:772-774, Taylor,R.M.,et al, 1986

The Cherry-Red Spot in Tay-Sachs & Other Storage Diseases
Ann Neurol 17:356-360, Kivlin,J.D.,et al, 1985

GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985

Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984

A Progressive Neurologic Disorder with Supranuclear Vertical Gaze Paresis & Distinctive Bone Marrow Cells
Mayo Clin Proc 59:404-410, Yan-go,F.L.,et al, 1984

Infantile Osteopetrosis & Neuronal Storage Disease
Neurol 33:437-441, Ambler,M.W.,et al, 1983

Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
Neurol 32:1295-1299, Longstreth,W.T.Jr.,et al, 1982



Showing articles 0 to 50 of 148 Next >>