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Xue-fan Gu Selected Research

Methylmalonic acidemia

3/2013[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
12/2007[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation].
5/2005[Application of tandem mass spectrometry in diagnosis of organic acidemias].
6/2004[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China].

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Xue-fan Gu Research Topics

Disease

6Phenylketonurias (Phenylketonuria)
12/2007 - 06/2004
4Propionic Acidemia
06/2008 - 06/2004
3Tyrosinemias (Tyrosinemia)
12/2012 - 06/2004
3Metabolic Diseases (Metabolic Disease)
11/2012 - 06/2004
2Mucopolysaccharidoses
06/2013 - 04/2007
2Homocystinuria
03/2013 - 06/2004
2Acidosis
03/2013 - 12/2007
2Gaucher Disease (Gaucher's Disease)
11/2012 - 12/2009
2Hypoglycemia (Reactive Hypoglycemia)
04/2010 - 06/2009
2Mental Retardation (Idiocy)
04/2008 - 04/2007
1Laron Syndrome (Syndrome, Laron)
12/2013
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
06/2013
1Lethargy
03/2013
1Seizures (Seizure)
03/2013
1Anemia
03/2013
1Vomiting
03/2013
1Hepatomegaly
12/2012
1Niemann-Pick Diseases (Niemann Pick Disease)
11/2012
1Malnutrition
06/2012
1Osteogenesis Imperfecta (Lobstein Disease)
01/2012
1Bone Fractures (Bone Fracture)
01/2012
1Hypoproteinemia
04/2010
1Hyperbilirubinemia
04/2010
1Intrahepatic Cholestasis
04/2010
1Jaundice
04/2010
1Hyperammonemia
04/2010
1Liver Diseases (Liver Disease)
04/2010
1Glycogen Storage Disease Type II (Pompe's Disease)
01/2010
1Glycogen Storage Disease Type III (Cori's Disease)
06/2009
1Hyperlipidemias (Hyperlipidemia)
06/2009
1Muscle Hypotonia (Hypotonia)
04/2008
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency
12/2007
1Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
12/2007
1Coma (Comas)
12/2007
1Ornithine Carbamoyltransferase Deficiency Disease
12/2007
1Maple Syrup Urine Disease
12/2007
1Post-Traumatic Stress Disorders (PTSD)
05/2007
1Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
09/2003

Drug/Important Bio-Agent (IBA)

4Methylmalonic acidemiaIBA
03/2013 - 06/2004
3Carnitine (L-Carnitine)FDA LinkGeneric
03/2013 - 06/2004
35,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin)FDA Link
06/2007 - 05/2005
2STF 62247IBA
12/2013 - 12/2009
2Folic Acid (Vitamin M)FDA LinkGeneric
03/2013 - 04/2008
2Phenylalanine (L-Phenylalanine)FDA Link
12/2012 - 06/2004
2succinylacetoneIBA
12/2012 - 02/2012
2acylcarnitineIBA
06/2012 - 06/2004
2GlycogenIBA
01/2010 - 06/2009
2Medium chain acyl CoA dehydrogenase deficiencyIBA
12/2007 - 06/2004
2HMG CoA lyase deficiencyIBA
05/2005 - 06/2004
1GALNS deficiencyIBA
06/2013
1HydroxocobalaminFDA Link
03/2013
1Betaine (C.B.B.)FDA Link
03/2013
1Vitamin B 6IBA
03/2013
1Tyrosine (L-Tyrosine)FDA Link
12/2012
1neodymium pyrocatechin disulfonate (NPD)IBA
11/2012
1chitotriosidaseIBA
11/2012
1Tyrosinemia type 1IBA
02/2012
1Alendronate (Alendronate Sodium)FDA LinkGeneric
01/2012
1Neonatal-onset citrullinemia type 2IBA
04/2010
1alpha-Fetoproteins (AFP)IBA
04/2010
1alpha-Glucosidases (Acid Maltase)IBA
01/2010
1Creatine Kinase (Creatine Phosphokinase)IBA
06/2009
1Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase)IBA
06/2008
1methylmalonyl-coenzyme A (methylmalonyl CoA)IBA
06/2008
1propionyl-coenzyme A (propionyl-CoA)IBA
06/2008
16-propylchromone-2-carboxylic acid (PCCA)IBA
06/2008
1DHPR deficiencyIBA
04/2008
1Short chain Acyl CoA dehydrogenase deficiencyIBA
12/2007
1VLCAD deficiencyIBA
12/2007
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
12/2007
11- phenyl- 3- azabicyclo(3.1.0)hexane- 2,4- dioneIBA
05/2007
1tetrahydropterinIBA
05/2007
1Iduronidase (alpha-L-Iduronidase)IBA
04/2007
1Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
05/2005
1isovaleric AcidemiaIBA
05/2005
1DNA (Deoxyribonucleic Acid)IBA
06/2004
1TransferasesIBA
06/2004
1Steroid 21-Hydroxylase (21 Hydroxylase)IBA
09/2003

Therapy/Procedure

1Aftercare (After-Treatment)
03/2013
1Enzyme Replacement Therapy
11/2012