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The effect of vitamin D administration on vitamin D status and respiratory morbidity in late premature infants

Pediatric pulmonology, 2020-11, Vol.55 (11), p.3080-3087

2020

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TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1293-1298

2019

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A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.330-336

2018

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Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2112-2118

2019

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Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI)

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3804-3809

2021

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B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Clinical genetics, 2020-06, Vol.97 (6), p.920-926

2020

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Inflammatory and vascular placental lesions are associated with neonatal amplitude integrated EEG recording in early premature neonates

PloS one, 2017-06, Vol.12 (6), p.e0179481-e0179481

2017

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Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.232-242

2023

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.606-617

2021

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Psychiatric and behavioral manifestations of lysosomal storage disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-10, Vol.153B (7), p.1253-1265

2010

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A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1167-n/a

2020

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The natural history of dihydrolipoamide dehydrogenase deficiency in Israel

Journal of inherited metabolic disease, 2024-07

2024

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A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

Human mutation, 2013-04, Vol.34 (4), p.582-586

2013

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Continuous Renal Replacement Therapy for Hyperammonemia Beyond Infancy

The Israel Medical Association journal, 2023-05, Vol.25 (5), p.357-359

2023

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The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency

Nutrients, 2021-10, Vol.13 (10), p.3523

2021

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Lysosomal storage disorders in the newborn

Pediatrics (Evanston), 2009-04, Vol.123 (4), p.1191

2009

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Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study

Frontiers in genetics, 2022-11, Vol.13, p.1030361-1030361

2022

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Nonhepatic hyperammonemic encephalopathy complications following bariatric surgery: a case report and review of the literature

Journal of medical case reports, 2021-07, Vol.15 (1), p.1-385, Article 385

2021

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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.379-379, Article 379

2021

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Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement

Children (Basel), 2022-04, Vol.9 (4), p.545

2022

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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children

Pediatric nephrology (Berlin, West), 2019-09, Vol.34 (9), p.1607-1613

2019

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Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe

Genes, 2021-07, Vol.12 (8), p.1140

2021

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Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100988-100988, Article 100988

2023

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Predictors of Developmental and Respiratory Outcomes Among Preterm Infants With Bronchopulmonary Dysplasia

Frontiers in pediatrics, 2021-11, Vol.9, p.780518-780518

2021

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Hereditary orotic aciduria identified by newborn screening

Frontiers in genetics, 2023-03, Vol.14, p.1135267-1135267

2023

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The effect of vitamin D administration on vitamin D status and respiratory morbidity in late premature infants

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI)

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Inflammatory and vascular placental lesions are associated with neonatal amplitude integrated EEG recording in early premature neonates

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

Psychiatric and behavioral manifestations of lysosomal storage disorders

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

Continuous Renal Replacement Therapy for Hyperammonemia Beyond Infancy

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency

Lysosomal storage disorders in the newborn

Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study

Nonhepatic hyperammonemic encephalopathy complications following bariatric surgery: a case report and review of the literature

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial

Predictors of Developmental and Respiratory Outcomes Among Preterm Infants With Bronchopulmonary Dysplasia

Hereditary orotic aciduria identified by newborn screening

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