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1
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
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Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 37, 2017, Vol.37, p.63-72 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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2
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment
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Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 39, 2018, Vol.39, p.89-96 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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3
Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis
Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis
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Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 29, 2016, Vol.29, p.33-38 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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4
Glutaric Acidemia Type 1: A Case of Infantile Stroke
Glutaric Acidemia Type 1: A Case of Infantile Stroke
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Glutaric Acidemia Type 1: A Case of Infantile Stroke

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 38, 2018, Vol.38, p.7-12 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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5
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome
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CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 29, 2016, Vol.29, p.47-52 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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6
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease
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Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 37, 2017, Vol.37, p.7-12 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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7
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
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Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 31, 2017, Vol.31, p.107-111 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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8
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease
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Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

Zschocke, Johannes ; Baumgartner, Matthias ; Morava, Eva ; Patterson, Marc ; Rahman, Shamima ; Peters, Verena

JIMD Reports, Volume 18, 2015, Vol.18, p.51-62 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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9
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome
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Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, Verena

JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.53-57 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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10
Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation
Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation
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Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

JIMD Reports, Volume 35, 2017, Vol.35, p.67-70 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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