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Acute hemodialysis therapy in neonates with inborn errors of metabolism

Pediatric nephrology (Berlin, West), 2022-11, Vol.37 (11), p.2725-2732

2022

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ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD

Annals of neurology, 2022-08, Vol.92 (2), p.279-291

2022

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Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

Journal of personalized medicine, 2021-10, Vol.11 (11), p.1105

2021

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Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single‐center experience underscoring the multiple factors involved in the prognosis

Pediatric blood & cancer, 2021-05, Vol.68 (5), p.e28926-n/a

2021

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Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

European journal of paediatric neurology, 2018-05, Vol.22 (3), p.525-531

2018

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Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease

Pediatric pulmonology, 2018-03, Vol.53 (3), p.366-373

2018

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Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.211-217

2016

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TMEM70 deficiency: long-term outcome of 48 patients

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.417-426

2015

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Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.583-584

2015

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Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

Human genetics, 2015-03, Vol.134 (3), p.305-314

2015

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Clinical presentation and outcome in a series of 88 patients with the cblC defect

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.831-840

2014

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Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Pediatric neurology, 2014-04, Vol.50 (4), p.421-426

2014

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Prenatal Brain Disruption in Molybdenum Cofactor Deficiency

Journal of child neurology, 2011-04, Vol.26 (4), p.460-464

2011

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Hyperpigmentation and hypotonia in a 3-month-old infant (Discussion and Diagnosis)

Acta Paediatrica, 2011-03, Vol.100 (3), p.469-470

2011

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Hyperpigmentation and hypotonia in a 3-month-old infant (Case Presentation)

Acta Paediatrica, 2011-03, Vol.100 (3), p.321-321

2011

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'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation)

Acta Paediatrica, 2010-09, Vol.99 (9), p.1285-1285

2010

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'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Discussion and Diagnosis)

Acta Paediatrica, 2010-09, Vol.99 (9), p.1437-1438

2010

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Familial leukoencephalopathy with slowly progressive dystonia and ataxia

European journal of paediatric neurology, 2009-11, Vol.13 (6), p.530-533

2009

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Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Pediatric research, 2009-09, Vol.66 (3), p.329-335

2009

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The significance of isolated elevation of serum aminotransferases in infants and young children

Archives of disease in childhood, 2007-12, Vol.92 (12), p.1109-1112

2007

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Clinical and molecular genetic features of ARC syndrome

Human genetics, 2006-10, Vol.120 (3), p.396-409

2006

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A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

The Journal of pediatrics, 2006-05, Vol.148 (5), p.671-676.e2

2006

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Myeloid dysplasia in familial 3-methylglutaconic aciduria

Journal of pediatric hematology/oncology, 2006-02, Vol.28 (2), p.69-72

2006

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Secondary diabetes mellitus: late complication of glycogen storage disease type 1b

Journal of Pediatric Endocrinology and Metabolism, 2005-06, Vol.18 (6), p.617

2005

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Splicing mutation in the fibrillin‐1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

Pediatric pulmonology, 2005-04, Vol.39 (4), p.374-378

2005

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Acute hemodialysis therapy in neonates with inborn errors of metabolism

ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD

Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single‐center experience underscoring the multiple factors involved in the prognosis

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

TMEM70 deficiency: long-term outcome of 48 patients

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Prenatal Brain Disruption in Molybdenum Cofactor Deficiency

Hyperpigmentation and hypotonia in a 3-month-old infant (Discussion and Diagnosis)

Hyperpigmentation and hypotonia in a 3-month-old infant (Case Presentation)

'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation)

'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Discussion and Diagnosis)

Familial leukoencephalopathy with slowly progressive dystonia and ataxia

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

The significance of isolated elevation of serum aminotransferases in infants and young children

Clinical and molecular genetic features of ARC syndrome

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Myeloid dysplasia in familial 3-methylglutaconic aciduria

Secondary diabetes mellitus: late complication of glycogen storage disease type 1b

Splicing mutation in the fibrillin‐1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

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