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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

Bali, Deeksha S. ; Goldstein, Jennifer L. ; Fredrickson, Keri ; Austin, Stephanie ; Pendyal, Surekha ; Rehder, Catherine ; Kishnani, Priya S. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

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

Germany: Springer Berlin / Heidelberg

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2
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

Balasubramaniam, Shanti ; Lewis, Barry ; Greed, Lawrence ; Meili, David ; Flier, Annegret ; Yamamoto, Raina ; Bilić, Karmen ; Till, Claudia ; Sass, Jörn Oliver Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

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

Germany: Springer Berlin / Heidelberg

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3
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

Waters, Paula J. ; Kitzler, Thomas M. ; Feigenbaum, Annette ; Geraghty, Michael T. ; Al-Dirbashi, Osama ; Bherer, Patrick ; Auray-Blais, Christiane ; Gravel, Serge ; McIntosh, Nathan ; Siriwardena, Komudi ; Trakadis, Yannis ; Brunel-Guitton, Catherine ; Al-Hertani, Walla Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, Shamima

JIMD Reports, Volume 39, 2018, Vol.39, p.89-96 [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

Kaya Ozcora, Gül Demet ; Gokay, Songul ; Canpolat, Mehmet ; Kardaş, Fatih ; Kendirci, Mustafa ; Kumandaş, Sefer Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

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

Barca, Emanuele ; Tang, Maoxue ; Kleiner, Giulio ; Engelstad, Kristin ; DiMauro, Salvatore ; Quinzii, Catarina M. ; De Vivo, Darryl C. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

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

Ruiz-Andrés, Carla ; Sellés, Elena ; Arias, Angela ; Gort, Laura Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

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

Germany: Springer Berlin / Heidelberg

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7
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

Brunham, Liam R. ; Kang, Martin H. ; Van Karnebeek, Clara ; Sadananda, Singh N. ; Collins, Jennifer A. ; Zhang, Lin-Hua ; Sayson, Bryan ; Miao, Fudan ; Stockler, Sylvia ; Frohlich, Jiri ; Cassiman, David ; Rabkin, Simon W. ; Hayden, Michael R. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

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

Germany: Springer Berlin / Heidelberg

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8
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

Anselm, Irina ; MacCuaig, Morgan ; Prabhu, Sanjay B. ; Berry, Gerard T. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 31, 2017, Vol.31, p.107-111 [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

Distelmaier, Felix ; Huppke, Peter ; Pieperhoff, Peter ; Amunts, Katrin ; Schaper, Jörg ; Morava, Eva ; Mayatepek, Ertan ; Kohlhase, Jürgen ; Karenfort, Michael Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, Eva

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

Varma, S. ; McIntyre, A. D. ; Hegele, R. A. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

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

Germany: Springer Berlin / Heidelberg

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