Lægespecialister fra Belgien tagget som efterforskere i kliniske forsøg, der studerer Smith-Lemli-Opitz syndrom
I alt 1 resultater
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Francois Boemer, PhDSet i:
- Wallonia, Liege, CRMN, Hôpital La Citadelle
Forsøg:- NCT05687474 (Underforsker)
Betingelser:- Medfødt binyrehyperplasi;
- Hæmofili A;
- Hæmofili B;
- Mucopolysaccharidosis I;
- Mucopolysaccharidosis II;
- Cystisk fibrose;
- Alpha 1-Antitrypsin mangel;
- Seglcellesygdom;
- Fanconi Anæmi;
- Kronisk granulomatøs sygdom;
- Wilsons sygdom;
- Svær medfødt neutropeni;
- Ornithin Transcarbamylase mangel;
- Mucopolysaccharidosis VI;
- Lysosomal Acid Lipase-mangel;
- Wiskott-Aldrich syndrom;
- Propionsyreacidæmi;
- Adrenoleukodystrofi;
- Glykogenopbevaringssygdom;
- Metakromatisk leukodystrofi;
- Crigler-Najjar syndrom;
- Galaktosæmi;
- Pompes sygdom;
- Shwachman-diamant syndrom;
- Medfødt hypothyroidisme;
- Alfa-thalassæmi;
- Biotinidase mangel;
- Diamond Blackfan Anæmi;
- Chediak-Higashi syndrom;
- Katekolaminerg polymorf ventrikulær takykardi;
- Cystinose;
- X-forbundet hypofosfatæmi;
- Aromatisk L-aminosyre decarboxylase mangel;
- Gauchers sygdom, type 1;
- Mucopolysaccharidosis IV A;
- Alport syndrom;
- Smith-Lemli-Opitz syndrom;
- Mucopolysaccharidosis VII;
- Primær hyperoxaluri;
- Griscelli syndrom;
- Dopamin Beta Hydroxylase mangel;
- Glut1 mangelsyndrom;
- Ahornsirup urinsygdom;
- Medfødt myastenisk syndrom;
- Jervell-Lange Nielsen Syndrom;
- Menkes sygdom;
- Homocystinuri;
- Progressiv familiær intrahepatisk kolestase;
- Ataksi med E-vitaminmangel;
- Glycin encefalopati;
- Pseudohypoaldosteronisme type 1;
- Langkædet 3-hydroxyacyl-CoA-dehydrogenase-mangel;
- Familiær Chylomikronæmi;
- Familiær hæmofagocytisk lymfocytose;
- Glucose 6-fosfatdehydrogenase-mangel;
- Citrullinæmi 1;
- Glutarsyreacidæmi I;
- Phosphoglucomutase 1 mangel;
- Tyrosinæmi, Type I;
- Familiær hyperinsulinemisk hypoglykæmi 1;
- Ungdomsdiabetes med modenhed;
- Hypophosphatasia, Infantil;
- Hypofysehormonmangel, kombineret;
- Inflammatorisk tarmsygdom 25, autosomal recessiv;
- Thiamin-responsiv megaloblastisk anæmi;
- Thiamin Metabolisme Dysfunktion Syndrom 2;
- Cerebral folattransportmangel;
- Segawa syndrom, autosomalt recessivt;
- Sepiapterin reduktase mangel;
- Sen-infantil neuronal ceroid lipofuscinose;
- Charcot-Marie-Tooth sygdom, Type 6C;
- Arvelig hyperekpleksi;
- Hjerne dopamin-serotonin vesikulær transportsygdom;
- Meget langkædet hydroxyacyldehydrogenase-mangel;
- Disakkaridintolerance I;
- Beta Ketothiolase mangel;
- Phosphoglycerat dehydrogenase mangel;
- Pyridoxin-5'-phosphatoxidase mangel;
- Pyridoxin-afhængig epilepsi;
- Phenylalanin Hydroxylase mangel;
- Riboflavinmangel;
- Medium Chain Acyl CoA dehydrogenase mangel;
- Malonsyreacidæmi;
- Isovalerisk acidæmi;
- Phosphoserin Aminotransferase mangel;
- Phosphoserine Phosphatase mangel;
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria;
- S-Adenosylhomocystein hydrolase mangel;
- Transcobalamin mangel;
- Isoleret methylmalonsyreacidæmi;
- Cobalamin mangel;
- Holocarboxylase-syntetase-mangel;
- Fanconi Bickel syndrom;
- Glucose Galactose Malabsorption;
- Fruktosæmi;
- Fruktose-1,6-diphosphatase mangel;
- Carbamoylphosphatsyntase 1-mangel;
- Citrullinæmi Type II;
- Kreatinmangelsyndrom;
- Systemisk primær carnitin mangel;
- Carnitin Palmitoyltransferase mangel 2;
- Carnitin Palmitoyltransferase mangel 1;
- Carnitin Acylcarnitin Translokase mangel;
- Riboflavin Transporter mangel;
- Forgrenet kæde-ketosyredehydrogenasekinase-mangel;
- Andersen Tawil syndrom;
- Timothy syndrom;
- Familiær hypertrofisk kardiomyopati type 4;
- Pseudohypoaldosteronisme, type II;
- Arvelig nefrogen diabetes Insipidus;
- Medfødt nefrotisk syndrom, finsk type;
- Arvelig retinoblastom;
- Aciduria, Argininoravsyre;
- 3-Hydroxy 3-Methyl glutarsyre;
- 3-Hydroxy-3-Methylglutaryl-CoA Syntase 2-mangel;
- Argininæmi;
- Underskud i hypofyseforreste funktion og variabel immundefekt;
- Alvorlig kombineret immundefekt;
- Thiamin Metabolisme Dysfunktion Syndrom 5 (Episodisk Encefalopati Type);
- Thiamin metabolisme dysfunktion syndrom 4 (bilateral striatal degeneration og progressiv polyneuropati type);
- Mangel på GOT2;
- Succinyl-Coa: 3-Ketoacid Coa-Transferase-mangel;
- N Acetylglutamatsyntetasemangel;
- Acyl-CoA-dehydrogenasefamilie, medlem 9, mangel på
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