Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation von Flusser, H, Korman, S H, Sato, K, Matsubara, Y, Galil, A, Kure, S

Volltext

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric acidu... von Kranendijk, M., Salomons, G. S., Gibson, K. M., Aktuglu-Zeybek, C., Bekri, S., Christensen, E., Clarke, J., Hahn, A., Korman, S. H., Mejaski-Bosnjak, V., Superti-Furga, A., Vianey-Saban, C., van der Knaap, M. S., Jakobs, C., Struys, E. A.

Volltext

Pseudo‐maple syrup urine disease due to maternal prenatal ingestion of fenugreek von Korman, SH, Cohen, E, Preminger, A

Volltext

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation von Spiegel, R., Shaag, A., Gutman, A., Korman, S. H., Saada, A., Elpeleg, O., Shalev, S. A.

Volltext

Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia von Boneh, A., Allan, S., Mendelson, D., Spriggs, M., Gillam, L.H., Korman, S.H.

Volltext

Phenotype and genotype variation in primary carnitine deficiency von Wang, Yuhuan, Korman, Stanley H., Ye, Jing, Gargus, J Jay, Gutman, Alisa, Taroni, Franco, Garavaglia, Barbara, Longo, Nicola

Volltext

Asymptomatic giardiasis in children von ISH-HOROWICZ, MIRIAM, KORMAN, STANLEY H, SHAPIRO, MERVYN, HAR-EVEN, UDI, TAMIR, ISRAEL, STRAUSS, NURITH, DECKELBAUM, RICHARD J

Volltext

Giardia lamblia : haploid genome size determined by pulsed field gel electrophoresis is less than 12 Mb von JIAN-BING FAN, KORMAN, S. H, CANTOR, C. R, SMITH, C. L

Volltext

Spontaneous chromosome rearrangements in the protozoan Giardia lamblia: estimation of mutation rates von le Blancq, Sylvie M., Korman, Stanley H., van der Ploeg, Lex H.T.

Volltext

Routine in vitro cultivation of Giardia lamblia by using the string test von KORMAN, S. H, HAIS, E, SPIRA, D. T

Volltext

INVESTIGATION OF HUMAN GIARDIASIS BY KARYOTYPE ANALYSIS von KORMAN, SH, LEBLANCQ, SM, DECKELBAUM, RJ, VANDERPLOEG, LHT

Volltext

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b von Grünert, Sarah C., Gautschi, Matthias, Baker, Joshua, Boyer, Monica, Burlina, Alberto, Casswall, Thomas, Corpeleijn, Willemijn, Çıki, Kismet, Cotter, Melanie, Crushell, Ellen, Derks, Terry G.J., Haas, Dorothea, Kilavuz, Sebile, Kingma, Sandra D.K., Korman, Stanley H., Kozek, Anne, de Laet, Corinne, Mundy, Helen, Nassogne, Marie Cecile, Quintero, Victor, Rossi, Alessandro, Spenger, Johannes, Spiegel, Ronen, Stephenne, Xavier, Stojkov, Darko, Tal, Galit, Veiga-da Cunha, Maria, Wortmann, Saskia B.

Volltext

Methylenetetrahydrofolate Reductase Deficiency: Importance of Early Diagnosis von Fattal-Valevski, Aviva, Bassan, Haim, Korman, Stanley H., Lerman-Sagie, Tally, Gutman, Alisa, Harel, Shaul

Volltext

Estimation of glucose carbon recycling in children with glycogen storage disease: A 13C NMR study using [U-13C]glucose von KALDERON, B, KORMAN, S. H, GUTMAN, A, LAPIDOT, A

Volltext

Glucose recycling and production in glycogenosis type I and III: stable isotope technique study von Kalderon, B, Korman, S. H, Gutman, A, Lapidot, A

Volltext

Frequent rearrangements of rRNA-encoding chromosomes in Giardia lamblia von LE BLANCQ, S. M, KORMAN, S. H, VAN DER PLOEG, L. H. T

Volltext

Giardia lamblia: Identification of different strains from man von Korman, S. H., Blancq, S. M., Spira, D. T., On, J. El, Reifen, R. M., Deckelbaum, R. J.

Volltext

Liver involvement in measles von Lotan, C, Matoth, I, Korman, S H

Volltext

Orocaecal transit time in Duchenne muscular dystrophy von Korman, S H, Bar-Oz, B, Granot, E, Meyer, S

Volltext

Endoscopic duodenal aspiration for diagnosis of giardiasis von Korman, Stanley H.

Volltext