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Petr Chrastina Selected Research

Sphingolipid Activator Proteins

2/2009Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

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Petr Chrastina Research Topics

Disease

3Homocystinuria
06/2019 - 11/2014
2Weight Gain
11/2021 - 03/2015
2Phenylketonurias (Phenylketonuria)
11/2021 - 06/2019
2Methylenetetrahydrofolate reductase deficiency
06/2019 - 01/2019
1Birth Weight (Birth Weights)
11/2021
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
09/2021
1Congenital Hypothyroidism (Cretinism)
06/2019
1Cystic Fibrosis (Mucoviscidosis)
06/2019
1Hyperargininemia
06/2019
1VLCAD deficiency
06/2019
1isovaleric Acidemia
06/2019
1Rare Diseases (Rare Disease)
06/2019
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
06/2019
1Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
06/2019
1Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
06/2019
1Medium chain acyl CoA dehydrogenase deficiency
06/2019
1Citrullinemia
06/2019
1Maple Syrup Urine Disease
06/2019
1Fatty Liver
03/2015
1Body Weight (Weight, Body)
03/2015
1Metabolic Syndrome (Dysmetabolic Syndrome X)
03/2015
1Insulin Resistance
03/2015
1Liver Neoplasms (Liver Cancer)
01/2010
1Tyrosinemias (Tyrosinemia)
01/2010
1Hypophosphatemic Rickets
01/2010
1Combined Saposin Deficiency
02/2009
1Metachromatic Leukodystrophy due to Saposin B Deficiency
02/2009
1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
02/2009

Drug/Important Bio-Agent (IBA)

2Proteins (Proteins, Gene)FDA Link
11/2021 - 02/2009
2Carnitine (L-Carnitine)FDA LinkGeneric
06/2019 - 03/2015
2LipidsIBA
03/2015 - 02/2009
1Phenylalanine (L-Phenylalanine)FDA Link
11/2021
1Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
06/2019
1Carnitine-Acylcarnitine Translocase DeficiencyIBA
06/2019
1TransferasesIBA
06/2019
1serum P-component (CIt)IBA
06/2019
1Methionine AdenosyltransferaseIBA
01/2019
1Nonesterified Fatty Acids (NEFA)IBA
03/2015
1Fatty Acids (Saturated Fatty Acids)IBA
03/2015
1Glucose (Dextrose)FDA LinkGeneric
03/2015
1Methionine (L-Methionine)FDA Link
11/2014
1CystathionineIBA
11/2014
1HomocysteineIBA
11/2014
1EnzymesIBA
01/2010
1fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA
01/2010
1ArylsulfatasesIBA
02/2009
1SphingolipidsIBA
02/2009
1Sphingolipid Activator ProteinsIBA
02/2009
1SaposinsIBA
02/2009

Therapy/Procedure

1Hematopoietic Stem Cell Transplantation
09/2021
1Secondary Prevention
06/2019
1Therapeutics
01/2010
1Liver Transplantation
01/2010