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Acid Maltase Deficiency
Acid maltase deficiency
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Related in the Kosmos
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Lysosomal storage diseases
(39)
Hurler syndrome
Lysosomal storage disorder
Mucopolysa- ccharidosis
Niemann Pick disease
Alpha-mannosidosis
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher's disease
Glycoproteinosis
Hunter syndrome
I-cell disease
Krabbe disease
Lipid storage disorder
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
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Inborn errors of metabolism
(106)
Carnitine deficiency
GSD type III
Glycogen storage disease
Maple syrup urine disease
Metabolic diseases
Metabolic diseases
Myoadenylate deaminase deficiency
Phosphorylase Deficiency
Urea cycle disorder
Von Gierke disease
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage diseases
Lysosomal storage disorder
Malonyl-CoA decarboxylase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Hepatology
(11)
Glycogen synthase deficiency
Glycogen
Amylopectinosis
Acanthocytosis
Hepatomegaly
Hepatomegaly
Alagille syndrome
Glycogen storage disease
GSD type III
Von Gierke disease
Carnitine deficiency
Hurler syndrome
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Autosomal recessive disorders
(10)
Phosphofructokinase deficiency
Ablepharon macrostomia syndrome
Phosphorylase Deficiency
GSD type III
Von Gierke disease
Von Gierke disease
Niemann Pick disease
Maple syrup urine disease
Carnitine deficiency
Hurler syndrome
Mucopolysa- ccharidosis
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Rare diseases
Aarskog syndrome
Alveolar capillary dysplasia
Alexander disease
Ablepharon macrostomia syndrome
Niemann Pick disease
Maple syrup urine disease
Alagille syndrome
Genetic disorders
(24)
Acrocephal- opolysyndactyly
Aicardi syndrome
Wolf–Hirschhorn syndrome
Aase syndrome
Genetic disorder
Genetic disorder
Apert syndrome
Alstrom syndrome
Spinal muscular atrophy
Mitochondrial disorders
Phosphorylase Deficiency
GSD type III
Phosphofructokinase deficiency
Von Gierke disease
Amylopectinosis
Aarskog syndrome
Alexander disease
Urea cycle disorder
Ablepharon macrostomia syndrome
Niemann Pick disease
Maple syrup urine disease
Carnitine deficiency
Hurler syndrome
Alagille syndrome
Mucopolysa- ccharidosis
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Diseases and disorders
(50)
Glycogen storage disease type 2
Myopathy
Anorchidism
Agenesis of corpus callosum
Lactate dehydrogenase deficiency
Lactate dehydrogenase deficiency
Phosphoglycerate kinase deficiency
Anus neoplasms
Acanthoche- ilonemiasis
Polymyositis
Danon disease
Lgmd
Acute idiopathic polyneuritis
Hypotonia
Cardiomyopathy
Aplasia cutis congenita
Anophthalmos
Altophobia
Adiposis dolorosa
Dermatomyositis
Anemia, hemolytic
Aniridia
Adie syndrome
Iodine deficiency
Myasthenia gravis
Neurotoxicity syndromes
Mitochondrial myopathy
Myoglobinuria
Granulomatosis
Glycogen storage disease
Phosphofructokinase deficiency
Amylopectinosis
Acrocephal- opolysyndactyly
Myoadenylate deaminase deficiency
Aarskog syndrome
Alveolar capillary dysplasia
Alexander disease
Urea cycle disorder
Metabolic diseases
Lysosomal storage diseases
Ablepharon macrostomia syndrome
Apert syndrome
Alstrom syndrome
Niemann Pick disease
Maple syrup urine disease
Carnitine deficiency
Spinal muscular atrophy
Hurler syndrome
Rare diseases
Alagille syndrome
Mucopolysa- ccharidosis
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EC 3.2.1
Acid maltase
Glucosidase
Alpha-glucosidase
Muscular disorders
(23)
Inclusion body myositis
Arthrogryposis
Central core disease
Centronuclear myopathy
Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia
Congenital myopathy
Diastasis recti
Laminopathy
Macrophagic myofasciitis
Metabolic myopathy
Mitochondrial myopathy
Muscular dystrophy
Myokmia
Myopathy
Nemaline myopathy
Orofacial myological disorders
Pelvic Floor Muscle Disorder
Polymyositis
Thyrotoxic myopathy
Torticollis
Writer's cramp
X-linked myotubular myopathy
Zenker's degeneration
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See also
(20)
Acid alpha-glucosidase
Lysosome
Glycogen debranching enzyme
Myophosphorylase
Hers' Disease
Hers' Disease
Tarui
AirCraft Casualty Emotional Support Services
Muscular Dystrophy Association
alopecia cicatrisata
Amda
Myozyme
Genzyme
Alternating hemiplegia
Autosomal recessive
Muscle biopsy
X linked
Acrodynia
Muscle weakness
Enzyme replacement therapy
Type VII
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