skip to main content
Idioma:
Mostrar Somente
Refinado por: Base de dados/Biblioteca: PubMed Central remover tipo de recurso: Book Chapters remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Quartel, Adrian ; Hendriksz, Christian J. ; Parini, Rossella ; Graham, Sue ; Lin, Ping ; Harmatz, Paul Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 18, 2015, Vol.18, p.1-11 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
2
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

Möllmann, Christian ; Lampe, Christian G. ; Müller-Forell, Wibke ; Scarpa, Maurizio ; Harmatz, Paul ; Schwarz, Manfred ; Beck, Michael ; Lampe, Christina Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Volume 11, 2013, Vol.11, p.65-72 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
3
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
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

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

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

Berlin, Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

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

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 ; 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]

Berlin, Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
5
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI

Kärki, Mari ; Näntö-Salonen, Kirsti ; Niinikoski, Harri ; Tanner, Laura M. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 25, 2016, Vol.25, p.47-55 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
6
Gastrointestinal and Swallowing Disturbances in Parkinson's Disease
Gastrointestinal and Swallowing Disturbances in Parkinson's Disease
Material Type:
Capítulo de Livro 		Adicionar ao Meu Espaço

Gastrointestinal and Swallowing Disturbances in Parkinson's Disease

Pfeiffer, Ronald F Lang, Anthony E ; Stocchi, Fabrizio ; Olanow, C. Warren

Parkinson's Disease, 2011, p.257-273

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por

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

Buscando em bases de dados remotas. Favor aguardar.