Neudle.com: lipid storage disease

Differential
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abdominal cramps

acid maltase deficiency

acid maltase deficiency, adult

acral sensory symptoms

acyl CoA dehydrogenase deficiency

adrenoleukodystrophy

adrenomyeloneuropathy

adverse drug reaction

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

atidarsagene autotemcel

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

carnitine deficiency myopathy

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.)

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

electroencephalogram, abnormalities of

enzyme, muscle disease

enzyme, serum

episodic disorders

episodic neurologic deficits

exercise

exercise intolerance

exercise-induced neurologic dysfunction

exome sequencing

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic neurologic disorders

genetic screening

genetic testing

glucocerebrosidase

glycogen storage disease

hemorrhagic diathesis

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatomegaly

hepatosplenomegaly

heralding manifestation

hexosaminidase-A

hexosaminidase-A and B

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

lactic dehydrogenase(LDH)

lead poisoning

learning disability, in children

leg weakness, bilateral

Leigh's disease

leukocyte enzyme abnormality

leukodystrophy

Lewy body disease, diffuse

life expectancy

limb-girdle weakness

lipid storage disorder of CNS

lipid storage myopathy

liver disease

lymphadenopathy

lysosomal storage disease

lysosomes, abnoral

macrocephaly

Marinesco-Sjogren syndrome

megalencephaly

memory, impairment of

meningitis, chronic

mental retardation

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

metachromatic leukodystrophy, late-infantile

misdiagnosis

mitral valve prolapse

movement disorder, extrapyramidal

MRI

MRI, abnormal

MRI, hypointense signal foci on

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy, Duchenne

myelopathy

myocardial infarction

N-acetyl-L-aspartic acid

neck weakness

neonatal screening, genetic neurologic disorders

neoplasm, primary of CNS

neuraminidase deficiency

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neurofibrillary degeneration

neurolipidosis IV

neurologic complications of, surgery

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

next-generation sequencing

Niemann-Pick disease

ophthalmoplegia

optic atrophy

optokinetic nystagmus, abnormal

Parkinsonism syndrome

paroxysmal neurologic deficits

polymerase chain reaction

polyneuropathy

Pompe's disease of glycogen storage

postpartum

precipitating factors

preclinical

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognosis

progressive neurologic disorder

propranolol

proteinuria

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

remote effect of cancer on the nervous system

renal failure

respiratory failure

respiratory tract infection

scoliosis, neurologic association with

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

sodium valproate

sodium valproate, toxicity

spasticity

speech, delayed development of

sphingolipodoses

sphingomyelin

spinal cord, compression of

spinocerebellar degeneration

splenomegaly

startle reaction

stem cell transplantation

thalamus, lesion of-bilateral

thrombocytopenia

toe walking

tone, muscle, increased

tongue, enlarged

treatment of neurologic disorder

urea-cycle enzymopathies

urinary sulfatidase excretion

urine test for metabolic disorders

urine, dark

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, chronic

weakness, fluctuating

weakness, generalized

weakness, progressive

weakness, proximal

white matter disease

wide based gait

Showing articles 50 to 100 of 335 << Previous Next >>

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

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

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

Nearly Fatal Muscle Carnitine Deficiency with Full Recovery after Replacement Therapy
Neurol 33:1629-1631, Prockop,L.D.,et al, 1983

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

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

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

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

Lipid Storage Myopathy:Successful Treatment with Propranolol
BMJ 282:1997-1999, Martyn,C.,et al, 1981

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

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

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

Carnitine Deficiency Acute Postpartum Crisis
Ann Neurol 4:558-561, Angelini,C.,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

A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025

A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025

Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024

Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023

Stroke Prevention in Symptomatic Large Artery Intracranial Atherosclerosis Practice Advisory
Neurol 98:486-498, Turan, T.N.,et al, 2022

A Comparison of Two LDL Cholesterol Targets after Ischemic Stroke
NEJM 382:9-19,81, Amarenco, P.,et al, 2020

A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020

Spinal Cord Involvement in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
JAMA Neurol 77:1169-1170, Li, S.,et al, 2020

Cholesterol Lowering and Prevention of Stroke
Stroke 50:537-541, Hackam, D.G. & Hegele, R.A., 2019

Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019

Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018

A Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 2017

Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017

Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016

Statin-Associated Autoimmune Myopathy
NEJM 374:664-669, Mammen, A.L., 2016

A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016

Primary Prevention of Stroke
JAMA 316:658-659, Steiger, N. & Cifu, A.S., 2016

Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014

Mystery Case: A 63-year-old Man with Progressive Proximal Pain and Weakness
Neurol 82:e26-e29, Scripko, P.D.,et al, 2014

Effect of high-dose Simvastatin on Brain Atrophy and Disability in Secondary Progressive Multiple Sclerosis (MS-STAT): A Randomised, Placebo-Controlled, Phase 2 Trial
Lancet 383:2213-2221, Chataway, J.,et al, 2014

Anti-HMGCR Autoantibodies in European Patients with Autoimmune Necrotizing Myopathies
Medicine 93:150-157, Allenbach, Y.,et al, 2014

Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013

Showing articles 50 to 100 of 335 << Previous Next >>