|
|
|
|
LEADER |
03176nam a22004215i 4500 |
001 |
000283757 |
005 |
20210811085518.0 |
007 |
cr nn 008mamaa |
008 |
170228s2017 gw | s |||| 0|eng d |
020 |
|
|
|a 9783662543856
|
024 |
7 |
|
|a 10.1007/978-3-662-54385-6
|2 doi
|
040 |
|
|
|a Sistema de Bibliotecas del Tecnológico de Costa Rica
|
245 |
1 |
0 |
|a JIMD Reports, Volume 32 /
|c edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
|
250 |
|
|
|a 1st ed. 2017.
|
260 |
# |
# |
|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2017.
|
300 |
|
|
|a VI, 124 p. 30 illus., 15 illus. in color. :
|b online resource.
|
336 |
|
|
|a text
|b txt
|2 rdacontent
|
337 |
|
|
|a computer
|b c
|2 rdamedia
|
338 |
|
|
|a online resource
|b cr
|2 rdacarrier
|
490 |
1 |
|
|a JIMD Reports,
|v 32
|
505 |
0 |
|
|a Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme -- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients -- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study -- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings -- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles -- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis -- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease -- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants -- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria -- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression -- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy -- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy -- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias -- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
|
650 |
|
0 |
|a Human genetics.
|
650 |
|
0 |
|a Metabolic diseases.
|
650 |
|
0 |
|a Pediatrics.
|
650 |
|
0 |
|a Molecular biology.
|
650 |
1 |
4 |
|a Human Genetics.
|
650 |
2 |
4 |
|a Metabolic Diseases.
|
650 |
2 |
4 |
|a Pediatrics.
|
650 |
2 |
4 |
|a Molecular Medicine.
|
700 |
1 |
|
|a Morava, Eva.
|e editor.
|
700 |
1 |
|
|a Baumgartner, Matthias.
|e editor.
|
700 |
1 |
|
|a Patterson, Marc.
|e editor.
|
700 |
1 |
|
|a Rahman, Shamima.
|e editor.
|
700 |
1 |
|
|a Zschocke, Johannes.
|e editor.
|
700 |
1 |
|
|a Peters, Verena.
|e editor.
|
710 |
2 |
|
|a SpringerLink (Online service)
|
773 |
0 |
|
|t Springer eBooks
|
900 |
|
|
|a Libro descargado a ALEPH en bloque (proveniente de proveedor)
|