Neudle.com: "lysosomes abnoral"

Differential
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acid maltase deficiency

acid maltase deficiency, adult

acral sensory symptoms

advances in neurology

anterior horn cell disease

anterior tibial muscle weakness

antiviral agents

arylsulfatase A

aspartate aminotransferase

attention deficit disorder with hyperactivity

axonal spheroid

Babinski sign

basal ganglia, lesion of

basal ganglia, lesion, bilateral

bone marrow transplantation

brain atrophy

burning feet

burning feet, differential diagnosis of

CAT scan, false negative

cataplexy

cataracts

cerebellar infarction

cerebral cortical atrophy

cerebral ischemia

cerebrospinal fluid

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, protein of

cerebrovascular accident

cerebrovascular accident, cryptogenic

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, young adult

cerebrovascular disease

cherry red spot

cherry red spot-myoclonus syndrome

children

chorea

chromosomal abnormality

chromosome 12

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

cultured skin fibroblasts

cyst, arachnoid

cystinosis

degenerative diseases of CNS

delay in diagnosis

dementia

developmental disability

developmental milestones, loss of

developmental retardation

differential diagnosis

difficulty going down stairs

distal muscle weakness

drooling

dropped head syndrome

electroencephalogram, abnormalities of

episodic neurologic deficits

exercise intolerance

exome sequencing

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

falling

familial

fever

flow study, carotid artery

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic neurologic disorders

genetic screening

glucocerebrosidase

glycogen storage disease

hemorrhagic diathesis

inborn errors of metabolism

inborn errors of metabolism, screening

incoordination

infection, recurrent

intellectual deterioration

intelligence quotient

intrathecal medication

intrauterine

Jakob-Creutzfeldt disease

jaundice

Jewish

Krabbe's disease

kyphoscoliosis, neurologic causes of

lactic acidemia

learning disability, in children

leukocyte enzyme abnormality

leukodystrophy

life expectancy

lipid storage disorder of CNS

lymphadenopathy

lysosomal storage disease

lysosomes, abnoral

macrocephaly

memory, impairment of

mental retardation

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

misdiagnosis

mitral valve prolapse

MRI, disappearing lesion on

MRI, hypointense signal foci on

MRS

mucopolysaccharidoses

muscle biopsy

muscle spasm

muscle wasting, diffuse

muscle weakness

myelopathy

myopathy

N-acetyl-L-aspartic acid

nerve conduction studies

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neurolipidosis IV

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination

neurologic testing

neuronal ceroid-lipofuscinosis

neuroophthalmology

neuropathology

neuropathy

neuropathy, demyelinating

neuropathy, painful

neuropathy, small-fiber

neuropathy, small-fiber, painful sensory

paroxysmal neurologic deficits

polymerase chain reaction

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

respiratory tract infection

scoliosis, neurologic association with

screening

seizure

seizure, children

seizure, laughing as manifestation

sensorineural hearing loss

skin, biopsy

skin, lesions in neurologic disorders

slit lamp examination

small vessel disease

spasticity

speech disorder

speech, delayed development of

spinal cord, compression of

splenomegaly

startle reaction

stem cell transplantation

thalamus, lesion of-bilateral

thrombocytopenia

toe walking

tone, muscle, increased

tongue, enlarged

treatment of neurologic disorder

tremor

tremor, intention

tripping

umbilical-cord blood transplantation

urea-cycle enzymopathies

urinary sulfatidase excretion

vasculopathy

ventricular enlargement

vertebral-basilar insufficiency

vertigo

vision, failure of in childhood

visual acuity, decreased

visual fields, constricted

visual loss

walking, delayed

walking, difficulty with

Showing articles 0 to 40 of 40

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

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

"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

Genetic Susceptibility to Stuttering
NEJM 362:750-752, Fisher,S.E. &Phil,D., 2010

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

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

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

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

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

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

Mucopolysaccharidosis III (Sanfilippo Syndrome) Type B:Cranial Imaging in Two Cases
J Comput Assist Tomogr 21:897-899, Petitti,N.,et al, 1997

Protein Processing in Lysosomes:The New Therapeutic Target in Neurodegenerative Disease
Lancet 340:156-159, Mayer,R.J.,et al, 1992

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

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

Showing articles 0 to 40 of 40