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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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Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.744-755

2023

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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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Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1298-1309

2020

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

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

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

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

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

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

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

Continuous Renal Replacement Therapy for Hyperammonemia Beyond Infancy

Lysosomal storage disorders in the newborn

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

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

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

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

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

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

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