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Affection neurologique par déficit en aminoacylase 1

Further information on this disease (ORPHANET)

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All Entries 2

11.5623312 48.1328805 Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

LMU Klinikum München

Ziemssenstr. 1a
80336 München

089 440057400
089 440057402
Website
Email

Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik

Classic pantothenate kinase-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Mitochondrial disease
Neuroferritinopathy
Atypical pantothenate kinase-associated neurodegeneration
Rare ataxia
Infantile neuroaxonal dystrophy
Mitochondrial membrane protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration
COASY protein-associated neurodegeneration
Hereditary spastic paraplegia
Leukodystrophy
Pantothenate kinase-associated neurodegeneration
Huntington disease

2

13.401469588279726 52.55956436539265 Verein für angeborene Stoffwechselstörungen e.V. (VfASS)

Verein für angeborene Stoffwechselstörungen e.V. (VfASS)

Dolomitenstr. 15

13187 Berlin

Disorder of amino acid and other organic acid metabolism
Alkaptonuria
Phenylketonuria
Carnitine palmitoyltransferase II deficiency
Galactosemia
Maple syrup urine disease

Parent facilities 0

Genetic Advices 0

Care facilities 1

11.5623312 48.1328805 Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

LMU Klinikum München

Ziemssenstr. 1a
80336 München

089 440057400
089 440057402
Website
Email

Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik

Classic pantothenate kinase-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Mitochondrial disease
Neuroferritinopathy
Atypical pantothenate kinase-associated neurodegeneration
Rare ataxia
Infantile neuroaxonal dystrophy
Mitochondrial membrane protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration
COASY protein-associated neurodegeneration
Hereditary spastic paraplegia
Leukodystrophy
Pantothenate kinase-associated neurodegeneration
Huntington disease

2

Supportgroups 1

13.401469588279726 52.55956436539265 Verein für angeborene Stoffwechselstörungen e.V. (VfASS)

Verein für angeborene Stoffwechselstörungen e.V. (VfASS)

Dolomitenstr. 15

13187 Berlin

Disorder of amino acid and other organic acid metabolism
Alkaptonuria
Phenylketonuria
Carnitine palmitoyltransferase II deficiency
Galactosemia
Maple syrup urine disease

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