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Refinado por: Base de dados/Biblioteca: EZB Electronic Journals Library remover Base de dados/Biblioteca: Journals@Ovid Full Text remover tipo de recurso: Book Chapters remover nível superior: Revistas revisadas por pares remover
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1
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 SSIEM

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

Germany: Springer Berlin / Heidelberg

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2
Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and Serum
Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and Serum
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Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and Serum

Belaidi, Abdel Ali ; Arjune, Sita ; Santamaria-Araujo, Jose Angel ; Sass, Jörn Oliver ; Schwarz, Guenter SSIEM

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.35-43 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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3
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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4
The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients
The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients
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The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients

Malinová, Věra ; Węgrzyn, Grzegorz ; Narajczyk, Magdalena SSIEM

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.21-25 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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5
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1
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Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1

Balasubramaniam, S. ; Choy, Y. S. ; Talib, A. ; Norsiah, M. D. ; van den Heuvel, L. P. ; Rodenburg, R. J. SSIEM

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.113-122 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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6
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. SSIEM

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

Germany: Springer Berlin / Heidelberg

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7
A Rare Galactosemia Complication: Vitreous Hemorrhage
A Rare Galactosemia Complication: Vitreous Hemorrhage
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A Rare Galactosemia Complication: Vitreous Hemorrhage

Takci, Sahin ; Kadayifcilar, Sibel ; Coskun, Turgay ; Yigit, Sule ; Hismi, Burcu SSIEM

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.89-93 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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8
Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site
Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site
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Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site

Cohen, Y. Haimi ; Bargal, R. ; Zeigler, M. ; Markus-Eidlitz, T. ; Zuri, V. ; Zeharia, A. SSIEM

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.83-88 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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9
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 Peters, Verena ; Gibson, K. Michael ; Brown, Garry ; Zschocke, Johannes ; Morava, Eva ; Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

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

Germany: Springer Berlin / Heidelberg

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10
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165

Zeevaert, R. ; de Zegher, F. ; Sturiale, L. ; Garozzo, D. ; Smet, M. ; Moens, M. ; Matthijs, G. ; Jaeken, J. Peters, Verena ; Gibson, K. Michael ; Brown, Garry ; Zschocke, Johannes ; Morava, Eva ; Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.145-152 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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