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W A Gahl Selected Research

Platelet Storage Pool Deficiency

9/2007Proteomic analysis of platelet alpha-granules using mass spectrometry.
11/2000Hermansky-Pudlak syndrome and related disorders of organelle formation.
3/2000Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

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W A Gahl Research Topics

Disease

7Cystinosis
03/2011 - 01/2000
3Platelet Storage Pool Deficiency
09/2007 - 03/2000
3Oculocutaneous Albinism (Albinism, Yellow Mutant)
09/2001 - 03/2000
2Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
09/2001 - 11/2000
2Lung Diseases (Lung Disease)
09/2001 - 02/2001
2Photophobia (Light Sensitivity)
09/2000 - 01/2000
1Wounds and Injuries (Trauma)
11/2012
1Gray Platelet Syndrome
08/2010
1Liver Diseases (Liver Disease)
01/2010
1Coloboma
01/2010
1Mental Retardation (Idiocy)
01/2010
1Fibrosis (Cirrhosis)
01/2010
1Ataxia (Dyssynergia)
01/2010
1Hypopigmentation (Hypomelanosis)
12/2009
1Anodontia
04/2009
1Inflammation
09/2007
1Mucolipidoses (Sialidosis)
12/2001
1Primary Myelofibrosis (Myelosclerosis)
11/2001
1Melanoma (Melanoma, Malignant)
09/2001
1Hemorrhage
09/2001
1Colitis
08/2001
1Pulmonary Fibrosis (Hamman Rich Syndrome)
08/2001
1Infection
07/2001
1Wolman Disease (Wolman's Disease)
07/2001
1Sialic Acid Storage Disease (Salla Disease)
06/2001
1Facies
06/2001
1Distal Myopathies (Distal Muscular Dystrophy)
02/2001
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
09/2000

Drug/Important Bio-Agent (IBA)

5Nephropathic cystinosisIBA
10/2001 - 01/2000
5CeroidIBA
09/2001 - 03/2000
3Proteins (Proteins, Gene)IBA
08/2010 - 09/2007
3Cystine (L-Cystine)IBA
02/2001 - 01/2000
2ProteomeIBA
08/2010 - 09/2007
2Monophenol Monooxygenase (Tyrosinase)IBA
12/2009 - 09/2001
2DNA (Deoxyribonucleic Acid)IBA
11/2001 - 02/2000
2N-Acetylneuraminic Acid (Sialic Acid)IBA
06/2001 - 06/2001
1sedoheptuloseIBA
03/2011
1TaurodontismIBA
07/2010
1COACH syndromeIBA
01/2010
1tranilast (N 5')IBA
04/2009
1Glycoproteins (Glycoprotein)IBA
09/2007
1Neuraminidase (Sialidase)IBA
12/2001
1OligosaccharidesIBA
12/2001
1Neuraminidase deficiency with beta-galactosidase deficiencyIBA
12/2001
1GlycopeptidesIBA
12/2001
1P-SelectinIBA
11/2001
1Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
11/2001
1Complementary DNA (cDNA)IBA
09/2001
1Lysosomal acid lipase deficiencyIBA
07/2001
1French type SialuriaIBA
06/2001
1vanilloid receptor subtype 1IBA
02/2000
1Messenger RNA (mRNA)IBA
01/2000
1ocular nonnephropathic CystinosisIBA
01/2000

Therapy/Procedure

1Organ Transplantation
11/2012