Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster Assigned diseases:
In the following you will find the diseases that are treated in this facility:
2-hydroxyglutaric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaric aciduria
3-hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
46,XX difference of sex development
46,XY difference of sex development
ALG1-CDG
ALG11-CDG
ALG12-CDG
ALG13-CDG
ALG2-CDG
ALG3-CDG
ALG6-CDG
ALG8-CDG
ALG9-CDG
Acromegaly
Acute adrenal insufficiency
Acute lung injury
Addison disease
Adult polyglucosan body disease
Aldosterone-producing adenoma
Allergic bronchopulmonary aspergillosis
Alpha-1-antitrypsin deficiency
Aminoacylase deficiency
Argininemia
Argininosuccinic aciduria
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney disease
B4GALT1-CDG
Beta-ketothiolase deficiency
Bronchiolitis obliterans
Bronchopulmonary dysplasia
CAD-CDG
CCDC115-CDG
Carbamoyl-phosphate synthetase 1 deficiency
Cerebral organic aciduria
Citrullinemia
Classic galactosemia
Classic organic aciduria
Combined malonic and methylmalonic acidemia
Congenital diaphragmatic hernia
Congenital disorder of glycosylation
Congenital dyserythropoietic anemia type II
Congenital lobar emphysema
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital myasthenic syndromes with glycosylation defect
Congenital pulmonary airway malformation
Congenital pulmonary sequestration
Congenital respiratory-biliary fistula
Congenital tracheomalacia
Cystic fibrosis
Cystinosis
DDOST-CDG
DK1-CDG
DPAGT1-CDG
DPM1-CDG
DPM3-CDG
Defect in V-ATPase
Defect in conserved oligomeric Golgi complex
Difference of sex development
Diffuse alveolar hemorrhage
Diffuse panbronchiolitis
Disorder of amino acid and other organic acid metabolism
Disorder of biogenic amine metabolism and transport
Disorder of carbohydrate metabolism
Disorder of energy metabolism
Disorder of galactose metabolism
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Disorder of lipid metabolism
Disorder of lysosomal-related organelles
Disorder of metabolite absorption and transport
Disorder of multiple glycosylation
Disorder of porphyrin and heme metabolism
Disorder of protein N-glycosylation
Disorder of protein O-glycosylation
Disorder of purine or pyrimidine metabolism
Disorder of urea cycle metabolism and ammonia detoxification
Erythrocyte galactose epimerase deficiency
Familial spontaneous pneumothorax
Fanconi-Bickel syndrome
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
GNE myopathy
Galactokinase deficiency
Galactose epimerase deficiency
Galactosemia
Generalized galactose epimerase deficiency
Genetic cystic renal disease
Genetic precocious puberty
Glutaryl-CoA dehydrogenase deficiency
Glycogen storage disease
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to glycogen synthase deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to muscle phosphofructokinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease due to phosphoglycerate mutase deficiency
Glycogen storage disease due to phosphorylase kinase deficiency
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
HSD10 disease
Hurler syndrome
Hurler-Scheie syndrome
Hyaluronidase deficiency
Hyperammonemia due to N-acetylglutamate synthase deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Idiopathic bronchiectasis
Infantile apnea
Infantile nephronophthisis
Interstitial lung disease in childhood and adulthood
Interstitial lung disease specific to childhood
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Juvenile nephronophthisis
Kallmann syndrome
Laryngotracheoesophageal cleft
Leukocyte adhesion deficiency type II
Lysosomal disease
MAN1B1-CDG
MGAT2-CDG
MOGS-CDG
MPDU1-CDG
MPI-CDG
McCune-Albright syndrome
Meconium aspiration syndrome
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia without homocystinuria
Mucopolysaccharidosis
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 3
Mucopolysaccharidosis type 4
Mucopolysaccharidosis type 4A
Mucopolysaccharidosis type 4B
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Mucopolysaccharidosis type 7
Multiple carboxylase deficiency
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
Nephronophthisis
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Organic aciduria
Ornithine transcarbamylase deficiency
Other metabolic disease
PGM1-CDG
PGM3-CDG
PMM2-CDG
Peroxisomal disease
Polyglucosan body myopathy type 1
Polyglucosan body myopathy type 2
Primary ciliary dyskinesia
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Primary pulmonary hypoplasia
Propionic acidemia
Pulmonary agenesis
Pulmonary alveolar microlithiasis
Pulmonary nodular lymphoid hyperplasia
RFT1-CDG
Rare epilepsy
Rare hypoparathyroidism
Recurrent respiratory papillomatosis
Renal or urinary tract malformation
Respiratory malformation
Reunion Island Larsen-like syndrome
SLC35A1-CDG
SLC35A2-CDG
SLC39A8-CDG
SRD5A3-CDG
SSR4-CDG
STT3A-CDG
STT3B-CDG
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sanfilippo syndrome type D
Scheie syndrome
Severe acute respiratory syndrome
Siegler-Brewer-Carey syndrome
Staphylococcal necrotizing pneumonia
Sudden infant death-dysgenesis of the testes syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency
TMEM165-CDG
TMEM199-CDG
Thrombotic microangiopathy
Tracheal agenesis
Tracheobronchopathia osteochondroplastica
Turner syndrome
Young syndrome