Publications by authors named "Yuval Landau"

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Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rachel Rock, Oded Rock, Suha Daas, Vered Biton-Regev, Nadav Sagiv, Yuval E Landau

J Inherit Metab Dis· January 2025

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The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Ben Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, Joshua Manor, Nitsan Haham

J Inherit Metab Dis· September 2024

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Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.
Orna Steinberg-Shemer, Joanne Yacobovich, Sharon Noy-Lotan, Orly Dgany, Tanya Krasnov, Yuval E Landau

Br J Haematol· March 2024

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Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Denise Aldrian, Birgit Waldner, Georg F Vogel, Areeg H El-Gharbawy, Patrick McKiernan, Yuval E Landau

J Inherit Metab Dis· March 2024

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Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS.
Vadim Khasminsky, Eitan Auriel, Judith Luckman, Ruth Eliahou, Edna Inbar, Yuval Landau

Neurol Genet· August 2023

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A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.
Nimrod Sachs, Oded Wechsberg, Yuval E Landau, Irit Krause, Ifat Israel Elgali

Gene· July 2023

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch

Genet Med· June 2023

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Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome.
Jonathan Naftali, Maor Mermelstein, Yuval E Landau, Rani Barnea, Shahar Shelly

Acta Neurol Belg· June 2023

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch

Genet Med· June 2023

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Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Nadirah S Damseh, Yuval Landau

J Inherit Metab Dis· March 2023

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Hereditary orotic aciduria identified by newborn screening.
Orna Staretz-Chacham, Nadirah S Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Yuval Landau

Front Genet· March 2023

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Long COVID-19 Liver Manifestation in Children.
Shiri Cooper, Ana Tobar, Osnat Konen, Naama Orenstein, Nesia Kropach Gilad, Yuval E Landau

J Pediatr Gastroenterol Nutr· September 2022

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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Yuval E Landau

Orphanet J Rare Dis· September 2021

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Dataset Growth in Medical Image Analysis Research.
Nahum Kiryati, Yuval Landau

J Imaging· August 2021

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Orna Staretz-Chacham, Suha Daas, Igor Ulanovsky, Ayala Blau, Nira Rostami, Yuval Landau

J Inherit Metab Dis· May 2021

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DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, Yuval E Landau

Genet Med· May 2021

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Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.
Yuval E Landau, Gali Heimer, Ortal Barel, Nechama Shalva, Dina Marek-Yagel

Mol Genet Metab Rep· December 2020

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Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Naomi Pode-Shakked, Stanley H Korman, Ben Pode-Shakked, Yuval Landau, Katya Kneller

Eur J Med Genet· June 2020

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Can untreated PKU patients escape from intellectual disability? A systematic review.
Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Yuval Landau

Orphanet J Rare Dis· August 2018

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Reversal of cystoid macular edema in gyrate atrophy patients.
Dan Heller, Chen Weiner, Iris Nasie, Yair Anikster, Yuval Landau

Ophthalmic Genet· December 2017

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Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Asaf Vivante, Hadas Ityel, Ben Pode-Shakked, Jing Chen, Shirlee Shril, Yuval E Landau

Pediatr Nephrol· December 2017

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Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.
Sharon Katz, Yuval Landau, Ben Pode-Shakked, Itai M Pessach, Marina Rubinshtein

Mol Genet Metab Rep· March 2017

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Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Yuval E Landau, Susan E Waisbren, Lawrence M A Chan, Harvey L Levy

J Inherit Metab Dis· March 2017

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Yuval Landau

Am J Hum Genet· February 2017

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Genomics in newborn screening.
Yuval E Landau, Uta Lichter-Konecki, Harvey L Levy

J Pediatr· January 2014

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