Sanfilippo syndrome type B
All Entries 7
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Fabry disease
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of ketolysis
Internationales Centrum für Lysosomale Speicherkrankheiten (ICLD) am Universitätsklinikum Hamburg-Eppendorf
Martin Zeitz Centrum für Seltene Erkrankungen (MZCSE) Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL) Universitätsklinikum Leipzig
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Carbamoyl-phosphate synthetase 1 deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Isovaleric acidemia
- Maple syrup urine disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- Galactosemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Propionic acidemia
- Argininosuccinic aciduria
- Ornithine transcarbamylase deficiency
- Biotinidase deficiency
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Classic pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- Leukodystrophy
- COASY protein-associated neurodegeneration
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Disorder of lipid metabolism
- Primary ciliary dyskinesia
- Respiratory malformation
- Autosomal dominant polycystic kidney disease
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Cystic fibrosis
- Disorder of amino acid and other organic acid metabolism
Gesellschaft für Mukopolysaccharidosen e.V.
Herstallstraße 35
63739
Aschaffenburg
Parent facilities 0
Genetic Advices 0
Care facilities 6
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Fabry disease
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of ketolysis
Internationales Centrum für Lysosomale Speicherkrankheiten (ICLD) am Universitätsklinikum Hamburg-Eppendorf
Martin Zeitz Centrum für Seltene Erkrankungen (MZCSE) Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL) Universitätsklinikum Leipzig
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Carbamoyl-phosphate synthetase 1 deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Isovaleric acidemia
- Maple syrup urine disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- Galactosemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Propionic acidemia
- Argininosuccinic aciduria
- Ornithine transcarbamylase deficiency
- Biotinidase deficiency
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Classic pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- Leukodystrophy
- COASY protein-associated neurodegeneration
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Disorder of lipid metabolism
- Primary ciliary dyskinesia
- Respiratory malformation
- Autosomal dominant polycystic kidney disease
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Cystic fibrosis
- Disorder of amino acid and other organic acid metabolism
Supportgroups 1
Gesellschaft für Mukopolysaccharidosen e.V.
Herstallstraße 35
63739
Aschaffenburg