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Results: 1-15 |
Results: 15
SIMULTANEOUS OCCURRENCE OF VARIOUS MUTATIONS AND POLYMORPHISMS IN CISAND IN TRANS OF THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE IN ATURKISH FAMILY WITH CLASSICAL GALACTOSEMIA
Authors: SCHUSTER V PODSKARBI T OTTENSMEIER H HAUBNER M SHIN YS
Citation: V. Schuster et al., SIMULTANEOUS OCCURRENCE OF VARIOUS MUTATIONS AND POLYMORPHISMS IN CISAND IN TRANS OF THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE IN ATURKISH FAMILY WITH CLASSICAL GALACTOSEMIA, Journal of molecular medicine, 76(10), 1998, pp. 715-719
INFANTILE MUSCLE PHOSPHORYLASE-B-KINASE DEFICIENCY - A CASE-REPORT
Authors: SAHIN G GUNGOR T RETTWITZVOLK W SCHLOTE W SHIN YS PODSKARBI T SEWELL AC
Citation: G. Sahin et al., INFANTILE MUSCLE PHOSPHORYLASE-B-KINASE DEFICIENCY - A CASE-REPORT, Neuropediatrics, 29(1), 1998, pp. 48-50
MOLECULAR ASPECTS OF GLYCOGEN-STORAGE-DISEASE TYPE IA IN TURKISH PATIENTS - A NOVEL MUTATION IN THE GLUCOSE-6-PHOSPHATASE GENE
Authors: HUNER G PODSKARBI T SCHUTZ M BAYKAL T SARBAT G SHIN YS DEMIRKOL M
Citation: G. Huner et al., MOLECULAR ASPECTS OF GLYCOGEN-STORAGE-DISEASE TYPE IA IN TURKISH PATIENTS - A NOVEL MUTATION IN THE GLUCOSE-6-PHOSPHATASE GENE, Journal of inherited metabolic disease, 21(4), 1998, pp. 445-446
DUARTE-1 (LOS-ANGELES) AND DUARTE-2 (DUARTE) VARIANTS IN GERMANY - 2 NEW MUTATIONS IN THE GALT GENE WHICH CAUSE A GALT ACTIVITY DECREASE BY40-50-PERCENT OF NORMAL IN RED-CELLS
Authors: SHIN YS KOCH HG KOHLER M HOFFMANN G PATSOURA A PODSKARBI T
Citation: Ys. Shin et al., DUARTE-1 (LOS-ANGELES) AND DUARTE-2 (DUARTE) VARIANTS IN GERMANY - 2 NEW MUTATIONS IN THE GALT GENE WHICH CAUSE A GALT ACTIVITY DECREASE BY40-50-PERCENT OF NORMAL IN RED-CELLS, Journal of inherited metabolic disease, 21(3), 1998, pp. 232-235
A NEW MUTATION OF THE GLUCOSE-6-PHOSPHATASE GENE IN A 4-YEAR-OLD GIRLWITH OLIGOSYMPTOMATIC GLYCOGEN-STORAGE-DISEASE TYPE 1A
Authors: KELLER KM SCHUTZ M PODSKARBI T BINDL L LENTZE MJ SHIN YS
Citation: Km. Keller et al., A NEW MUTATION OF THE GLUCOSE-6-PHOSPHATASE GENE IN A 4-YEAR-OLD GIRLWITH OLIGOSYMPTOMATIC GLYCOGEN-STORAGE-DISEASE TYPE 1A, The Journal of pediatrics, 132(2), 1998, pp. 360-361
NEWBORN SCREENING FOR GALACTOSEMIA - ULTRAMICRO ASSAY FOR GALACTOSE-1-PHOSPHATE-URIDYLTRANSFERASE ACTIVITY
Authors: RHODE H ELEI E TAUBE I PODSKARBI T HORN A
Citation: H. Rhode et al., NEWBORN SCREENING FOR GALACTOSEMIA - ULTRAMICRO ASSAY FOR GALACTOSE-1-PHOSPHATE-URIDYLTRANSFERASE ACTIVITY, Clinica chimica acta, 274(1), 1998, pp. 71-87
SCREENING FOR GALACTOSEMIA IN GREECE
Authors: SCHULPIS K PAPAKONSTANTINOU ED MICHELAKAKIS H PODSKARBI T PATSOURAS A SHIN Y
Citation: K. Schulpis et al., SCREENING FOR GALACTOSEMIA IN GREECE, Paediatric and perinatal epidemiology, 11(4), 1997, pp. 436-440
CHARACTERIZATION OF 2 STOP CODON MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 3 MALE GALACTOSEMIC PATIENTS WITH SEVERE CLINICAL MANIFESTATION (VOL 96, PG 721, 1995)
Authors: GATHOF BS SOMMER M PODSKARBI T REICHARDT J BRAUN A GRESSER U SHIN YS
Citation: Bs. Gathof et al., CHARACTERIZATION OF 2 STOP CODON MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 3 MALE GALACTOSEMIC PATIENTS WITH SEVERE CLINICAL MANIFESTATION (VOL 96, PG 721, 1995), Human genetics, 97(5), 1996, pp. 699-699
3 MISSENSE MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 3 FAMILIES WITH MILD GALACTOSEMIA
Authors: SHIN YS GATHOF BS PODSKARBI T SOMMER M GIUGLIANI R GRESSER U
Citation: Ys. Shin et al., 3 MISSENSE MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 3 FAMILIES WITH MILD GALACTOSEMIA, European journal of pediatrics, 155(5), 1996, pp. 393-397
MOLECULAR CHARACTERIZATION OF DUARTE-1 AND DUARTE-2 VARIANTS OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE
Authors: PODSKARBI T KOHLMETZ T GATHOF BS KLEINLEIN B BIEGER WP GRESSER U SHIN YS
Citation: T. Podskarbi et al., MOLECULAR CHARACTERIZATION OF DUARTE-1 AND DUARTE-2 VARIANTS OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE, Journal of inherited metabolic disease, 19(5), 1996, pp. 638-644
CHARACTERIZATION OF 2 STOP CODON MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 3 MALE GALACTOSEMIC PATIENTS WITH SEVERE CLINICAL MANIFESTATION
Authors: GATHOF BS SOMMER M PODSKARBI T REICHARDT J BRAUN A GRESSER U SHIN YS
Citation: Bs. Gathof et al., CHARACTERIZATION OF 2 STOP CODON MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 3 MALE GALACTOSEMIC PATIENTS WITH SEVERE CLINICAL MANIFESTATION, Human genetics, 96(6), 1995, pp. 721-725
MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 2 FAMILIES WITH MILD GALACTOSEMIA VARIANTS
Authors: SOMMER M GATHOF BS PODSKARBI T GIUGLIANI R KLEINLEIN B SHIN YS
Citation: M. Sommer et al., MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE OF 2 FAMILIES WITH MILD GALACTOSEMIA VARIANTS, Journal of inherited metabolic disease, 18(5), 1995, pp. 567-576
STUDIES OF DNA IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY AND THE DUARTE VARIANT IN GERMANY
Authors: PODSKARBI T REICHARDT J SHIN YS
Citation: T. Podskarbi et al., STUDIES OF DNA IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY AND THE DUARTE VARIANT IN GERMANY, Journal of inherited metabolic disease, 17(1), 1994, pp. 149-150
FATAL ARTHROGRYPOSIS WITH RESPIRATORY INSUFFICIENCY - A POSSIBLE CASEOF MUSCLE PHOSPHORYLASE B-KINASE DEFICIENCY
Authors: SHIN YS PLOCHL E PODSKARBI T MUSS W PILZ P PUTTINGER R
Citation: Ys. Shin et al., FATAL ARTHROGRYPOSIS WITH RESPIRATORY INSUFFICIENCY - A POSSIBLE CASEOF MUSCLE PHOSPHORYLASE B-KINASE DEFICIENCY, Journal of inherited metabolic disease, 17(1), 1994, pp. 153-155
ON THE MOLECULAR NATURE OF THE DUARTE AND LOS-ANGELES VARIANTS OF GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE
Authors: REICHARDT JKV KIRBY LT PODSKARBI T SHIN YS NG WG
Citation: Jkv. Reichardt et al., ON THE MOLECULAR NATURE OF THE DUARTE AND LOS-ANGELES VARIANTS OF GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE, American journal of human genetics, 53(3), 1993, pp. 943-943
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