The effect of vitamin D administration on vitamin D status and respiratory morbidity in late premature infants von Golan‐Tripto, Inbal, Bistritzer, Jacob, Loewenthal, Neta, Staretz‐Chacham, Orna, Dizitzer, Yotam, Goldbart, Aviv

Volltext

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel von Pode‐Shakked, Ben, Landau, Yuval E., Shaul Lotan, Nava, Manor, Joshua, Haham, Nitsan, Kristal, Eyal, Hershkovitz, Eli, Hazan, Guy, Haham, Yarden, Almashanu, Shlomo, Anikster, Yair, Staretz‐Chacham, Orna

Volltext

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation von Safran, Amit, Proskorovski‐Ohayon, Regina, Eskin‐Schwartz, Marina, Yogev, Yuval, Drabkin, Max, Eremenko, Ekaterina, Aharoni, Sarit, Freund, Ofek, Jean, Matan M., Agam, Nadav, Hadar, Noam, Loewenthal, Neta, Staretz‐Chacham, Orna, Birk, Ohad S.

Volltext

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation von Staretz‐Chacham, Orna, Wormser, Ohad, Manor, Esther, Birk, Ohad S., Ferreira, Carlos R.

Volltext

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease von Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.

Volltext

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion von Cohen, Idan, Staretz‐Chacham, Orna, Wormser, Ohad, Perez, Yonatan, Saada, Ann, Kadir, Rotem, Birk, Ohad S.

Volltext

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome von Staretz‐Chacham, Orna, Shukrun, Rachel, Barel, Ortal, Pode‐Shakked, Ben, Pleniceanu, Oren, Anikster, Yair, Shalva, Nechama, Ferreira, Carlos R., Ben‐Haim Kadosh, Admit, Richardson, Justin, Mane, Shrikant M., Hildebrandt, Friedhelm, Vivante, Asaf

Volltext

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI) von Marek‐Yagel, Dina, Eliyahu, Aviva, Veber, Alvit, Shalva, Nechama, Philosoph, Amit Mary, Barel, Ortal, Javasky, Elisheva, Pode‐Shakked, Ben, Loewenthal, Neta, Anikster, Yair, Staretz‐Chacham, Orna

Volltext

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature von Staretz‐Chacham, Orna, Noyman, Iris, Wormser, Ohad, Abu Quider, Abed, Hazan, Guy, Morag, Iris, Hadar, Noam, Raymond, Kimiyo, Birk, Ohad S., Ferreira, Carlos R., Koifman, Arie

Volltext

Inflammatory and vascular placental lesions are associated with neonatal amplitude integrated EEG recording in early premature neonates von Paz-Levy, Dorit, Schreiber, Letizia, Erez, Offer, Goshen, Sharon, Richardson, Justin, Drunov, VIadimir, Staretz Chacham, Orna, Shany, Eilon

Volltext

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia von Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Damseh, Nadirah S., Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora C., Habib, Clair, Josefsberg, Sagi, Korman, Stanley H., Kneller, Katya, Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Hanna, Manor, Yehoshua, Moady Abdalla, Tameemi, Rock, Rachel, Rostami, Nira, Saada, Ann, Saraf‐Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Staretz‐Chacham, Orna, Tal, Galit, Ulanovsky, Igor, Vaisid, Taly, Wilnai, Yael, Almashanu, Shlomo

Volltext

The role of orotic acid measurement in routine newborn screening for urea cycle disorders von Staretz‐Chacham, Orna, Daas, Suha, Ulanovsky, Igor, Blau, Ayala, Rostami, Nira, Saraf‐Levy, Talya, Abu Salah, Nasser, Anikster, Yair, Banne, Ehud, Dar, Dalit, Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora, Hershkovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Keidar, Rimona, Korman, Stanley H., Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Dror, Mandel, Hanna, Marom, Ronella, Morag, Iris, Nadir, Erez, Yosha‐Orpaz, Naama, Pode‐Shakked, Ben, Pras, Elon, Reznik‐Wolf, Haike, Saada, Ann, Segel, Reeval, Shaag, Avraham, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Vaisid, Taly, Zeharia, Avi, Almashanu, Shlomo

Volltext

Psychiatric and behavioral manifestations of lysosomal storage disorders von Staretz-Chacham, Orna, Choi, Jae Hyuk, Wakabayashi, Kazuyo, Lopez, Grisel, Sidransky, Ellen

Volltext

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency von Staretz‐Chacham, Orna, Schlotawa, Lars, Wormser, Ohad, Golan‐Tripto, Inbal, Birk, Ohad S., Ferreira, Carlos R., Dierks, Thomas, Radhakrishnan, Karthikeyan

Volltext

Continuous Renal Replacement Therapy for Hyperammonemia Beyond Infancy von Cavari, Yuval, Yermiahu, Olga, Staretz Chacham, Orna, Beck Rosen, Guy, Neeman, Eitan, Lazar, Isaac

Volltext

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta von Volodarsky, Michael, Markus, Barak, Cohen, Idan, Staretz-Chacham, Orna, Flusser, Hagit, Landau, Daniella, Shelef, Ilan, Langer, Yshaia, Birk, Ohad S.

Volltext

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children von Vivante, Asaf, Chacham, Orna Staretz, Shril, Shirlee, Schreiber, Ruth, Mane, Shrikant M., Pode-Shakked, Ben, Soliman, Neveen A., Koneth, Irene, Schiffer, Mario, Anikster, Yair, Hildebrandt, Friedhelm

Volltext

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency von Staretz-Chacham, Orna, Pode-Shakked, Ben, Kristal, Eyal, Abraham, Smadar Yaala, Porper, Keren, Wormser, Ohad, Shelef, Ilan, Anikster, Yair

Volltext

Lysosomal Storage Disorders in the Newborn von Staretz-Chacham, Orna, Lang, Tess C, LaMarca, Mary E, Krasnewich, Donna, Sidransky, Ellen

Volltext

Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study von Epstein Weiss, Tali, Erez, Offer, Hazan, Itai, Babiev, Amit-Shira, Staretz Chacham, Orna

Volltext