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

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

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation von Korman, Stanley H., Wexler, Isaiah D., Gutman, Alisa, Rolland, Marie-Odile, Kanno, Junko, Kure, Shigeo

Volltext

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation von Korman, Stanley H, Andresen, Brage S, Zeharia, Avraham, Gutman, Alisa, Boneh, Avihu, Pitt, James J

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

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents von Raas-Rothschild, Annick, Wanders, Ronald J.A., Mooijer, Petra A.W., Gootjes, Jeannette, Waterham, Hans R., Gutman, Alisa, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Kondo, Naomi, Eshel, Gideon, Espeel, Marc, Roels, Frank, Korman, Stanley H.

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

Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing... von Korman, Stanley H, Gutman, Alisa, Brooks, Rivka, Sinnathamby, Thayline, Gregersen, Niels, Andresen, Brage S

Volltext

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem von Boneh, Avihu, Korman, Stanley H, Sato, Kenichi, Kanno, Junko, Matsubara, Yoichi, Lerer, Israela, Ben-Neriah, Ziva, Kure, Shigeo

Volltext

N-acetyl Tyrosyluria Caused by Parenteral or Enteral Administration of N-acetyl-L-tyrosine: Differentiation From Hereditary and Acquired Tyrosinemias von Korman, Stanley H., Gutman, Alisa

Volltext

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis von Korman, Stanley H., Gutman, Alisa, Stemmer, Edia, Kay, Barrie S., Ben-Neriah, Ziva, Zeigler, Marsha

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

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

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

Volltext

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

Volltext

Pancreatic Pseudocyst: Successful Treatment by Percutaneous External Catheter Drainage von Korman, Stanley H., Lebensart, Pinchas, Martin, Oz, Katz, Schmuel, Tamir, Israel

Volltext

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

Volltext