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Multiple Sulfatase Deficiency
Multiple sulfatase deficiency
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Lipid storage disorders
(13)
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gangliosidoses
Sandhoff disease
Wolman disease
Gaucher's disease
Krabbe disease
Niemann-Pick disease, type C
Niemann–Pick disease
Schindler disease
Tay-Sachs disease
more...
Genodermatoses
(9)
X-linked ichthyosis
Erythrokeratodermia variabilis
Distal Arthrogryposis, Type IIA
Benign familial pemphigus
Congenital ichthyosiform erythroderma
Congenital ichthyosiform erythroderma
Craniofacial dysostosis
Peeling skin syndrome
Sjogren-larsson syndrome
Chondrodysplasia punctata
more...
Autosomal recessive disorders
(14)
Tay-sachs disease, ab variant
Cerebrotendineous xanthomatosis
Metachromatic leukodystrophy
Mucopolysa- ccharidosis
McArdle syndrome
McArdle syndrome
Mucolipidosis
Batten disease
Mucopolysa- ccharidosis, type I
Carnitine deficiency
Farber disease
Gangliosidoses
Wolman disease
Congenital ichthyosiform erythroderma
Sandhoff disease
more...
Rare diseases
(12)
Cholesteryl ester storage disease
5p- syndrome
Tay-sachs disease, ab variant
GM1 gangliosidoses
GM2 gangliosidoses
GM2 gangliosidoses
Farber disease
Gangliosidoses
Metachromatic leukodystrophy
Wolman disease
Congenital ichthyosiform erythroderma
Fabry's disease
Sandhoff disease
more...
Diseases and disorders
(15)
Muscular dystrophy
Sulfatidosis
Maroteaux-Lamy syndrome
Joint stiffness
Megarectum
Megarectum
Mucous retention cyst
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
GM2 gangliosidoses
Farber disease
Gangliosidoses
Metachromatic leukodystrophy
Wolman disease
Fabry's disease
Sandhoff disease
more...
Lysosomal storage diseases
(39)
Lysosomal storage disease
Mucopolysa- ccharidosis, type II
Pseudo-Hurler polydystrophy
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher's disease
Glycogen storage disease type II
Glycoproteinosis
I-cell disease
Krabbe disease
Lipid storage disorder
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Mucopolysa- ccharidosis, type I
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Genetic disorders
(29)
Niemann-Pick disease, SMPD1-associated
Fukuyama type muscular dystrophy
Muscular dystrophy - Duchenne type
Partial monosomy
Genetic carrier
Genetic carrier
4p- syndrome
Tay-sachs disease, ab variant
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
GM2 gangliosidoses
Cholesteryl ester storage disease
Farber disease
Muscular dystrophy
Gangliosidoses
Metachromatic leukodystrophy
Wolman disease
Mucopolysa- ccharidosis, type II
Mucopolysa- ccharidosis
McArdle syndrome
Mucolipidosis
Congenital ichthyosiform erythroderma
Batten disease
Fabry's disease
Mucopolysa- ccharidosis, type I
Sandhoff disease
Craniofacial dysostosis
5p- syndrome
Pseudo-Hurler polydystrophy
Carnitine deficiency
more...
Metabolic disorders
(59)
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Antithrombin III deficiency
Antithrombin III deficiency
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
GM2 gangliosidoses
Galactosemia
Galactosemic cataract
Gangliosidoses
Gaucher's disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Obesity
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay-Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Medical condition
(70)
Jansky-bielschowsky disease
Polyglucosan body disease adult
Congenital hypomyelination
Camptomelic syndrome
Microphthalmia cataract
Microphthalmia cataract
Chromosome 9 trisomy
Chromosome 9 tetrasomy 9p
Chromosome 5 trisomy 5p
Nakamura osame syndrome
Nanism due to growth hormone combined deficiency
Narrow oral fissure short stature cone shaped epiphyses
Nephronophthisis familial adult spastic quadriparesis
Nephropathy deafness hyperparathyroidism
Nephropathy familial with hyperuricemia
Nephrosis deafness urinary tract digital malformation
Nephrotic syndrome ocular anomalies
Neuhauser eichner opitz syndrome
Neuraminidase beta-galactosidase deficiency
Neuroaxonal dystrophy renal tubular acidosis
Neuroma biliary tract
Neuronal interstitial dysplasia
Neuropathy motor sensory type 2 deafness mental retardation
Neuropathy sensory spastic paraplegia
Neutropenia intermittent
Neutropenia monocytopenia deafness
Night blindness skeletal anomalies unusual facies
Noble bass sherman syndrome
Non-lissencephalic cortical dysplasia
Noninsulin- -dependent diabetes mellitus with deafness
Nose polyposis familial
Novak syndrome
Morvan disease
Cutis laxa recessive
N-acetyl-g- lucosamine-6-sulfate sulfatase deficiency
Mesangiocapillary glomerulonephritis
Metatropic dwarfism
Netherton syndrome ichthyosis
Ichthyosis hystrix curth macklin type
Diencephalic syndrome
Sphingolipidoses
Meningococcal
Marinesco sjogren syndrome
Cerebrotendineous xanthomatosis
Sea-blue histiocyte syndrome
Cholesteryl ester storage disease
Farber disease
Fukuyama type muscular dystrophy
Muscular dystrophy
Metachromatic leukodystrophy
Sulfatidosis
X-linked ichthyosis
Wolman disease
Muscular dystrophy - Duchenne type
Mucopolysa- ccharidosis, type II
Mucopolysa- ccharidosis
Distal Arthrogryposis, Type IIA
Lysosomal storage diseases
Benign familial pemphigus
Partial monosomy
Mucolipidosis
Batten disease
Fabry's disease
Mucopolysa- ccharidosis, type I
Sandhoff disease
Craniofacial dysostosis
Peeling skin syndrome
5p- syndrome
Sjogren-larsson syndrome
Carnitine deficiency
Chondrodysplasia punctata
more...
See also
(20)
Sea-blue histiocyte syndrome
Enzymes
Iduronate sulfatase
Proteins
Midface trauma
Midface trauma
Sulfatase
SUMF1
Muscle glycogen phosphorylase
Sphingolipids
Autosomal recessive
Anemia, macrocytic
Arylsulfatase A
Coarse facial features
Mullerian duct
Cornification
Camptodactyly
Dentin dysplasia
Dermatan sulfate
Dysplasia
Ceramide
more...
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