Neudle.com: neuronal storage disease

Differential
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abdominal cramps

acid maltase deficiency

acid maltase deficiency, adult

acral sensory symptoms

adrenoleukodystrophy

adrenomyeloneuropathy

adult polyglucosan body disease

adverse drug reaction

agalsidase alfa

agitation

alpha glucosidase

alternating rapid movement

aminoacidopathies

aminoacidurias

amniocentesis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, guamian type of

angina pectoris

angiokeratoma

anhidrosis

anterior horn cell disease

anterior tibial muscle weakness

anti GQ1b IgG antibody

anticonvulsants

anticonvulsants, selection of

Arnold Chiari malformation

arthropathy

arthropathy, neuropathic

arylsulfatase A

aspartate aminotransferase

aspiration

asymptomatic

ataxia

ataxia telangiectasia

atidarsagene autotemcel

attention

attention deficit disorder with hyperactivity

attention span

atypical

autoantibodies

autonomic dysfunction

axonal degeneration

axonal spheroid

Babinski sign

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basilar impression

Bassen-Kornzweig syndrome

behavioral disorder

bladder dysfunction

blindness

blood dyscrasias, neurologic findings with

bone marrow biopsy

bone marrow transplantation

bradykinesia

brain atrophy

brain biopsy

brain biopsy, complications of

brain biopsy, false negative

brain biopsy, indication

brainstem, infarction of

bulbar palsy

burning feet

burning feet, differential diagnosis of

CAT scan, false negative

catalepsy

cataplexy

cataracts

cerebellar ataxia, children

cerebellar ataxia, children, differential diagnosis of

cerebellar atrophy, primary

cerebellar degeneration

cerebellar infarction

cerebral cortical atrophy

cerebral ischemia

cerebro hepato renal syndrome

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.)

congestive heart failure

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

deep gray nuclei

degenerative diseases of CNS

delay in diagnosis

dementia

dementia, childhood

dementia, diagnostic evaluation of

dementia, presenile

dentatorubral-pallidoluysian atrophy

depression

developmental disability

developmental milestones, loss of

developmental retardation

diagnostic criteria

diarrhea

differential diagnosis

difficulty going down stairs

diplopia

disease modifying agents

distal muscle weakness

DNA probes

drooling

dropped head syndrome

drug induced neurologic disorders

electroencephalogram, abnormalities of

electromyogram

electron microscopy

electronystagmography

electroretinograph

encephalitis, brainstem

episodic neurologic deficits

executive dysfunction

exercise intolerance

exome sequencing

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

fine motor function, impaired

fundus, abnormality of

gangliosidosis, generalized

gargoylism

Gaucher's disease

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

glucocerebrosidase

glycogen storage disease

glycoprotein

GM1 ganglioside

GM1 ganglioside antibodies

granular osmiphilic material

growth retardation

Guillain Barre syndrome, ophthalmoplegia in

Hallervorden Spatz disease

hallucination

hallucination, visual

hemorrhagic diathesis

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

hepatosplenomegaly

heralding manifestation

herpes virus infection

hexosaminidase-A

hexosaminidase-A and B

hypotension, systemic

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, intracytopasmic

incoordination

infection, recurrent

intellectual deficit

intellectual deterioration

intelligence quotient

internuclear ophthalmoplegia

internuclear ophthalmoplegia, bilateral

intrathecal medication

intrinsic hand muscles, wasting of

introverted

iridoplegia

Jakob-Creutzfeldt disease

jaundice

Jewish

Kearns-Sayre syndrome

klippel feil syndrome

Krabbe's disease

kyphoscoliosis, neurologic causes of

Laurence-Moon-Bardet-Biedl syndrome

lead poisoning

learning disability, in children

Leigh's disease

leukocyte enzyme abnormality

leukocyte peroxidase

leukodystrophy

leukoencephalopathy

leukoencephalopathy, hereditary diffuse

Lewy body disease, diffuse

life expectancy

limb-girdle weakness

lipid storage disorder of CNS

liver disease

lymphadenopathy

lymphocyte fingerprint profiles

lysosomal storage disease

Marinesco-Sjogren syndrome

megalencephaly

memory, defect of recent

memory, impairment of

meningitis, chronic

mental retardation

MERRF syndrome

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

metachromatic leukodystrophy, late-infantile

microcephaly

miglustat

mimics

Mini Mental Status Examination

misdiagnosis

mitral valve prolapse

molecular genetics

mongolism

monoclonal antibodies

mortality

motor neuron disease

movement disorder

movement disorder, extrapyramidal

MRI

MRI, abnormal

MRI, hypointense signal foci on

MRI, negative

MRI, serial

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

muscle biopsy

muscle spasm

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy, Duchenne

myelomalacia

myeloneuropathy

myelopathy

myocardial infarction

myopathy, mitochondrial

myopathy, vacuolar

myopia

N-acetyl-L-aspartic acid

N-acetyl-L-leucine

negative

neonatal screening, genetic neurologic disorders

neoplasm, primary of CNS

neuraminidase deficiency

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal leukodystrophy

neurofibrillary degeneration

neurogenic bladder

neuroichthyosis

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, ataxic

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, painful

neuropathy, small-fiber

neuropathy, small-fiber, painful sensory

neurosis

next-generation sequencing

Niemann-Pick disease

night blindness

nystagmus

nystagmus, dissociated

one and a half syndrome

ophthalmoplegia

ophthalmoplegia, acute

ophthalmoplegia, bilateral, acute

ophthalmoplegia, plus syndrome

ophthalmoplegia, progressive external

ophthalmoplegia, total

optic atrophy

optic nerve

optic neuropathy

optokinetic nystagmus, abnormal

paraparesis, familial spastic

Parkinson disease, postencephalitic

Parkinsonism syndrome

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

pigmentary retinopathy

polyglucosan body

polyglucosan body disease

polymerase chain reaction

polyneuropathy

Pompe's disease of glycogen storage

Pompe's disease, infantile

precipitating factors

preclinical

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognosis

progressive myoclonic epilepsy

progressive neurologic disorder

proteinuria

pseudobulbar palsy

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

psychosis

pupil, abnormality in neurologic disorders

putamen, lesion of

putamen, lesion of, bilateral

remote effect of cancer on the nervous system

renal failure

respiratory failure

respiratory tract infection

salivation, excessive

Salla disease

Sandhoff's disease

schizophrenia

scoliosis, neurologic association with

seizure, laughing as manifestation

seizure, paradoxical

seizure, treatment of

sensorineural hearing loss

skin, lesions in neurologic disorders

skull x-ray, abnormal

slit lamp examination

slurred speech

small vessel disease

spasticity

speech, delayed development of

sphingomyelin

spinal cord, compression of

spinocerebellar degeneration

splenomegaly

startle reaction

stem cell transplantation

storage disease of CNS

strabismus

stuttering

subacute sclerosing panencephalitis(S.S.P.E.)Dawson's disease

subdural hematoma

systemic illness

tandem gait, ataxic

tapetoretinal degeneration

Tay-Sachs disease

thalamus, lesion of

thalamus, lesion of-bilateral

thrombocytopenia

toe walking

tone, muscle, increased

tongue, enlarged

treatment of neurologic disorder

Unverricht-Lundborg disease

urea-cycle enzymopathies

urinary incontinence

urinary sulfatidase excretion

urine test for metabolic disorders

Usher's syndrome

vasculopathy

ventricular enlargement

vertebral-basilar insufficiency

vertigo

vestibulopathy

viral infection, CNS

vision, failure of in childhood

visual acuity, decreased

visual field defect

visual fields, constricted

visual loss

visual loss, progressive

visual loss, slow

visual loss, transient

visuospatial disturbance

Von Hippel Lindau

walking, delayed

walking, difficulty with

weakness

weakness, progressive

weakness, proximal

Werdnig-Hoffman disease

West disease

wheelchair

white matter disease

whole genome sequencing

wide based gait

writing

Showing articles 50 to 100 of 895 << Previous Next >>

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

Lower Motor Neuron Disease in a Patient with Autoantibodies Against Gangliosides GM1 and GD1b:Improvement with Immunotherapy
Neurol 40:842-844, Shy,M.E.,et al, 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

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

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

Serum Antibodies to GM1 Ganglioside in Amytrophic Lateral Sclerosis
Neurol 38:1457-1461, Pestronk,A.,et al, 1988

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

CT in Ceroid Lipofuscinosis
Neurol 37:1025-1026, Dunn,D.W., 1987

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

Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,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

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

Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
NEJM 310:595, MacLeod,P.M.,et al, 1984

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

Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984

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

Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983

Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982

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

Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982

An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981

Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981

Adrenoleukodystrophy:Elevated C26 Fatty Acid in Cultured Skin Fibroblasts
Ann Neurol 7:542-549, Moser,H.W.,et al, 1980

Alzheimer Neurofibrillary Tangles in Diseases Other Than Senile & Presenile Dementia
Ann Neurol 5:288-294, Wisniewski,K.,et al, 1979

Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978

Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978

Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978

Diagnostic Significance of Myeloperoxidase Assay in Neuronal Ceroidlipofuscinoses (Batten-Vogt Syndrome)
Neurol 28:924-927, Pilz,H.,et al, 1978

Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977

Diagnosis of Fabry's Disease by Tear-Galactosidase A-Correspondence NEJM 290:57
1974., , 1974

Niemann-Pick Disease
Correspondence NEJM 289:590, Dacremont,G.,et al, 1973

Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973

Progressive Paresis of Vertical Gaze in Lipid Storage Disease
Neurol 21:896, Grover,W., 1971

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Abnormal Head Size, In Neurology In Pediatrics
(Ed) , 1970 Year Book Med. Publishers, p. 61., Bray,P.F., 1970

Cerebellar Ataxia in Children
Handout & References., Gilbert,J.J., 1850

Clinical Insights Into CASPR1 and CASPR1/Contactin1 Com-lex Autoimmune Nodopathies
Neurol 106:e214403, Paramasivan,N.K.,et al, 2026

Frequency of AQP4 and MOG Antibodies in Patients with Optic Neuritis Fulfilling Minimal New Multiple Sclerosis MRI Criteria
Neurol 106:e214753, Deschamps,R.,et al, 2026

A 35-Year-Old Man with Recurrent Asymmetric Lumbosacral and Cervical Plexopathy
Neurol 106:e214910, Tayade,K.S., et al, 2026

Showing articles 50 to 100 of 895 << Previous Next >>