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1
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide
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Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

Khan, Aneal ; Hanley, David A. ; McNeil, Colleen ; Boyd, Steven

JIMD Reports, Volume 22, 2015, Vol.22, p.23-28 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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2
Hydrostratigraphy as a control on subduction zone mechanics through its effects on drainage: an example from the Nankai Margin, SW Japan
Hydrostratigraphy as a control on subduction zone mechanics through its effects on drainage: an example from the Nankai Margin, SW Japan
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Hydrostratigraphy as a control on subduction zone mechanics through its effects on drainage: an example from the Nankai Margin, SW Japan

SAFFER, D.M Manning, Craig ; Yardley, Bruce ; Garven, Grant

Frontiers in Geofluids, 2011, Vol.10 (1-2), p.114-131 [Periódico revisado por pares]

United Kingdom: Oxford, UK : Blackwell Publishing Ltd

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3
Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency
Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency
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Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency

Sudarsanam, Annapurna ; Singh, Harry ; Wilcken, Bridget ; Stormon, Michael ; Arbuckle, Susan ; Schmitt, Bernhard ; Clayton, Peter ; Earl, John ; Webster, Richard

JIMD Reports, Volume 17, 2014, Vol.17, p.67-70 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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4
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
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PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

Coman, D. ; Lewindon, P. ; Clayton, P. ; Riney, K.

JIMD Reports, Volume 25, 2016, Vol.25, p.71-75 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
Faults and fault properties in hydrocarbon flow models
Faults and fault properties in hydrocarbon flow models
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Faults and fault properties in hydrocarbon flow models

Yardley, Bruce ; Manning, Craig ; Garven, Grant Manning, Craig ; Yardley, Bruce ; Garven, Grant

Frontiers in Geofluids, 2011, p.94-113 [Periódico revisado por pares]

United Kingdom: Wiley

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6
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
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Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings

Richardson, Annely ; Berry, Gerard T. ; Garganta, Cheryl ; Abbott, Mary-Alice

JIMD Reports, Volume 32, 2017, Vol.32, p.25-32 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease
Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease
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Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease

Elias, Abdallah F. ; Johnson, Maria Ronningen ; Boitnott, John K. ; Valle, David

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.95-98 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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8
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India
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Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

Bijarnia-Mahay, Sunita ; Movva, Sireesha ; Gupta, Neerja ; Sharma, Deepak ; Puri, Ratna D. ; Kotecha, Udhaya ; Saxena, Renu ; Kabra, Madhulika ; Mohan, Neelam ; Verma, Ishwar C

JIMD Reports, Volume 19, 2015, Vol.19, p.85-93 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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9
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
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Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Bala, P. ; Ferdinandusse, S. ; Olpin, S. E. ; Chetcuti, P. ; Morris, A. A. M.

JIMD Reports, Volume 27, 2016, Vol.27, p.11-15 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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10
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
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MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

Finkenstedt, Armin ; Schranz, Melanie ; Bösch, Sylvia ; Karall, Daniela ; Bürgi, Sabine Scholl ; Ensinger, Christian ; Drach, Mathias ; Mayr, Johannes A. ; Janecke, Andreas R ; Vogel, Wolfgang ; Nachbaur, David ; Zoller, Heinz

JIMD Reports - Volume 10, 2013, Vol.10, p.41-44 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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