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Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)
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Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)

Quaio, C. R. D. C. ; Grinberg, H. ; Vieira, M. L. C. ; Paula, A. C. ; Leal, G. N. ; Gomy, I. ; Leistner-Segal, S. ; Giugliani, R. ; Bertola, D. R. ; Kim, C. A.

JIMD Reports - Case and Research Reports, 2012/1, 2012, Vol.4, p.125-128 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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2
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
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A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica

Lobo-Prada, Tanya ; Sticht, Heinrich ; Bogantes-Ledezma, Sixto ; Ekici, Arif ; Uebe, Steffen ; Reis, André ; Leal, Alejandro Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 36, 2017, Vol.36, p.59-66 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I
Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I
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Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

Schroeder, L. ; Orchard, P. ; Whitley, C. B. ; Berry, J. M. ; Tolar, J. ; Miller, W. ; Braunlin, E. A. Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Volume 10, 2013, Vol.10, p.87-94 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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4
Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant
Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant
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Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant

Gupta, Sampada ; O’Meara, Anne ; Wynn, Robert ; McDermott, Michael Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Volume 10, 2013, Vol.10, p.119-123 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome
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Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

Pineda, M. ; O’Callaghan, M. ; Fernandez Lopez, A. ; Coll, M. J. ; Ullot, R. ; Garcia-Fructuoso, G. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 30, 2016, Vol.30, p.7-14 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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