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 300 to 335 of 335 << Previous

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

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

Tarsal Tunnel Syndrome Caused by Hyperlipidemia, Reversal After Plasmapheresis
Arch Neurol 40:124-125, Ruderman,M.I.,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

Neuroaxonal Dystrophy in Young Adults:A Clinicopathological Study of Two Unrelated Cases
Ann Neurol 11:335-343, Williamson,K.,et al, 1982

Examination of Dental Pulp to Diagnose Infantile Neuroaxonal Dystrophy
Arch Neurol 39:422-423, Carlo,J.,et al, 1982

Self-Grasping:A Focal Neurological Sign
Ann Neurol 12:575-577, Ropper,A.H., 1982

Acute Thallium Poisoning, Toxicological & Morphological Studies of the Nervous System
Ann Neurol 10:38-44, Davis,L.E.,et al, 1981

A Progressive Neurologic Syndrome In Children With Chronic Liver Disease
NEJM 304:503-508, Rosenblum,J.L.,et al, 1981

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

Diagnosis of Infatile Neuroaxonal Dystrophy by Skin Biopsy
Ann Neurol 7:377-379, Wisniewski,K.,et al, 1980

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

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

Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 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

Weakness in Malignancy:Evidence for a Remote Effect of Tumor on Distal Axons
Ann Neurol 4:268-274, Barron,S.A.,et al, 1978

Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978

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

Drug-Induced Myopathies In Man
Lancet 2:562-566, Lane,R.J.M.,et al, 1978

The Ultrastructure of the Sural Nerve in Pompe's Disease
Ann Neurol 2:111, Goebel,H.H.,et al, 1977

Clofibrate-Induced Muscle Damage with Myoglobinuria & Cardiomyopathy
NEJM 296:942, Smals,A.G.H., 1977

The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977

Multiple Progressive Intracranial Arterial Occlusions ("moya-moya"disease)
JNNP 40:853, , 1977

Platelet Coagulant Activities & Serum Lipids In Transient Cerebral Ischemia
NEJM 295:854, Walsh,P.N.,et al, 1976

Platelet-Inhibiting Drugs in the Prevention of Clinical Thrombotic Disease
NEJM 293:174, Genton,E.,et al, 1975

Hyperlipidemic Dementia
Arch Neurol 31:67, Heilman,K.M.,et al, 1974

Case Records of MGH-Polycythemia
Carotid Occlusion & Cerebral Infarcts, NEJM 291:96674., , 1974

Dilantin
NEJM 289:808, Parlatore,A.A., 1973

The Treatment of Cerebrovascular Disease with Clofibrate
VA Cooperative Study Group, Stroke 4:6841973., , 1973

Muscular Syndrome after Clofibrate
NEJM 286:1110, Katsilambros,N., 1972

Clofibrate for the Treatment of Occlusive CVD-Correspondence
NEJM 287:671, Hirsch,S.,et al, 1972

Interpretation of Lipoprotein Electrophoresis Patterns
Fredrickson, et al, NEJM 276:32967., , 1967

SLE Case Report-Pathology of the Cardiac Conduction System in SLE
Am J Med 264:255, 1972 Ann Int Med 63:4021965., James,T.,et al, 1965

Hysterical Hemiplegia and Hemianesthesia
Postgrad Med 31:339-345, Magee,K.R., 1962

Showing articles 300 to 335 of 335 << Previous