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1
Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy
Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy
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Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy

Manning, Nigel J. ; Allen, Elizabeth K. ; Kirk, Richard J. ; Sharrard, Mark J. ; Smith, Edwin J.

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.71-75 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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2
Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism
Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism
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Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

Bayarchimeg, Mashbat ; Ismail, Dunia ; Lam, Amanda ; Burk, Derek ; Kirk, Jeremy ; Hogler, Wolfgang ; Flanagan, Sarah E ; Ellard, Sian ; Hussain, Khalid

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.7-11 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process
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Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

Langereis, E. J. ; van den Berg, I. E. T. ; Halley, D. J. J. ; Poorthuis, B. J. H. M. ; Vaz, F. M. ; Wokke, J. H. J. ; Linthorst, G. E.

JIMD Reports – Case and Research Reports, 2012/6, 2013, Vol.9, p.117-120 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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4
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity
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The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity

Rhein, Cosima ; Naumann, Julia ; Mühle, Christiane ; Zill, Peter ; Adli, Mazda ; Hegerl, Ulrich ; Hiemke, Christoph ; Mergl, Roland ; Möller, Hans-Jürgen ; Reichel, Martin ; Kornhuber, Johannes

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.1-6 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case
The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case
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The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

Tchan, M. C. ; Wilcken, B. ; Christodoulou, J.

JIMD Reports – Case and Research Reports, 2012/6, 2013, Vol.9, p.81-84 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
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An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease

Bennett, James T. ; Schwarz, Kathleen B. ; Swanson, Phillip D. ; Hahn, Si Houn

JIMD Reports - Volume 10, 2013, Vol.10, p.79-82 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
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Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

Siebert, Marina ; Bock, Hugo ; Michelin-Tirelli, Kristiane ; Coelho, Janice C. ; Giugliani, Roberto ; Saraiva-Pereira, Maria Luiza

JIMD Reports – Case and Research Reports, 2012/6, 2013, Vol.9, p.7-16 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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8
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
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ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

Dercksen, M. ; Crutchley, A. C. ; Honey, E. M. ; Lippert, M. M. ; Matthijs, G. ; Mienie, L. J. ; Schuman, H. C. ; Vorster, B. C. ; Jaeken, J.

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.17-23 [Periódico revisado por pares]

Berlin, Heidelberg: 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

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

Berlin, Heidelberg: Springer Berlin Heidelberg

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10
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance
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Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

Ünal, Özlem ; Coşkun, Turgay ; Orhan, Diclehan ; Tokatl, Ayşegül ; Dursun, Ali ; Hişmi, Burcu ; Özyüncü, Özgür ; Sivri, Serap Hatice Kalkanoğlu

JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.33-36 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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