skip to main content
Idioma:
Resultados 1 2 next page
Mostrar Somente
Refinado por: Base de dados/Biblioteca: Wiley Online Library Journals Frontfile Complete remover tipo de recurso: Book Chapters remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
2
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
3
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
4
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
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
5
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
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
6
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
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
7
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
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
8
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
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

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

Berlin, Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
9
Meiosis : recombination and the control of cell division
Meiosis : recombination and the control of cell division
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

Meiosis : recombination and the control of cell division

Jenczewski, Eric ; Mercier, Raphaël ; Macaisne, Nicolas ; Mézard, Christine

PLANT GENOME, 2013, Vol.2

Springer-Verlag

Texto completo disponível

Citações Citado por
10
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
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
Resultados 1 2 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (14)

Data de Publicação 

De até
Refinar
  1. Antes de2003  (5)
  2. 2003Até2011  (3)
  3. 2012Até2013  (5)
  4. 2014Até2016  (5)
  5. Após 2016  (1)
  6. Mais opções open sub menu

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.