| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accumulated BH4 in mouse liver caused by administration of either 6R- or 6SBH4 consisted solely of the 6R-diastereomer: Evidence of oxidation to BH2 and enzymic reduction
|
Sawabe, Keiko
|
|
2005
|
|
S |
p. 145-147
3 p.
|
artikel
|
| 2 |
ADHD, learning, and academic performance in phenylketonuria
|
Antshel, Kevin M.
|
|
2010
|
|
S |
p. S52-S58
7 p.
|
artikel
|
| 3 |
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
|
Saheki, Takeyori
|
|
2004
|
|
S |
p. 20-26
7 p.
|
artikel
|
| 4 |
Adult phenylketonuria outcome and management
|
Trefz, F.
|
|
2011
|
|
S |
p. S26-S30
5 p.
|
artikel
|
| 5 |
Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: A DTI study of the corpus callosum
|
White, Desiree A.
|
|
2010
|
|
S |
p. S41-S46
6 p.
|
artikel
|
| 6 |
Ammonia toxicity to the brain and creatine
|
Bachmann, Claude
|
|
2004
|
|
S |
p. 52-57
6 p.
|
artikel
|
| 7 |
Ammonia toxicity to the brain: Effects on creatine metabolism and transport and protective roles of creatine
|
Braissant, Olivier
|
|
2010
|
|
S |
p. S53-S58
6 p.
|
artikel
|
| 8 |
Animal models of brain dysfunction in phenylketonuria
|
Martynyuk, A.E.
|
|
2010
|
|
S |
p. S100-S105
6 p.
|
artikel
|
| 9 |
Arginases I and II: do their functions overlap?
|
Cederbaum, Stephen D
|
|
2004
|
|
S |
p. 38-44
7 p.
|
artikel
|
| 10 |
Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses
|
Shapiro, Elsa G.
|
|
2017
|
|
S |
p. 8-16
|
artikel
|
| 11 |
Beyond executive function: Non-executive cognitive abilities in individuals with PKU
|
Janzen, Darren
|
|
2010
|
|
S |
p. S47-S51
5 p.
|
artikel
|
| 12 |
Brain imaging in urea cycle disorders
|
Gropman, Andrea
|
|
2010
|
|
S |
p. S20-S30
11 p.
|
artikel
|
| 13 |
Cellular accumulation of tetrahydrobiopterin following its administration is mediated by two different processes; direct uptake and indirect uptake mediated by a methotrexate-sensitive process
|
Sawabe, Keiko
|
|
2005
|
|
S |
p. 133-138
6 p.
|
artikel
|
| 14 |
Characterization of 2-(methylamino)alkanoic acid capacity to restrict blood–brain phenylalanine transport in Pahenu2 mice: Preliminary findings
|
Vogel, Kara R.
|
|
2013
|
|
S |
p. S71-S78
8 p.
|
artikel
|
| 15 |
Citrin deficiency and current treatment concepts
|
Saheki, Takeyori
|
|
2010
|
|
S |
p. S59-S64
6 p.
|
artikel
|
| 16 |
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
|
Lambruschini, Nilo
|
|
2005
|
|
S |
p. 54-60
7 p.
|
artikel
|
| 17 |
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin
|
Gassió, R.
|
|
2010
|
|
S |
p. S75-S78
4 p.
|
artikel
|
| 18 |
Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across development
|
van Spronsen, F.J.
|
|
2011
|
|
S |
p. S45-S51
7 p.
|
artikel
|
| 19 |
Cognitive outcome in urea cycle disorders
|
Gropman, Andrea L
|
|
2004
|
|
S |
p. 58-62
5 p.
|
artikel
|
| 20 |
Cover 2 / Ed. Board
|
|
|
2010
|
|
S |
p. IFC-
1 p.
|
artikel
|
| 21 |
Cover 2 / Ed. Board
|
|
|
2010
|
|
S |
p. IFC-
1 p.
|
artikel
|
| 22 |
Cover 2 / Ed. Board
|
|
|
2017
|
|
S |
p. IFC
|
artikel
|
| 23 |
Creatine metabolism and the urea cycle
|
Brosnan, John T.
|
|
2010
|
|
S |
p. S49-S52
4 p.
|
artikel
|
| 24 |
Current concepts in the pathogenesis of urea cycle disorders
|
Braissant, Olivier
|
|
2010
|
|
S |
p. S3-S12
10 p.
|
artikel
|
| 25 |
Decreased phenylalanine uptake and turnover in patients with vitiligo
|
Schallreuter, Karin U.
|
|
2005
|
|
S |
p. 27-33
7 p.
|
artikel
|
| 26 |
Delivery of exogenous tetrahydrobiopterin (BH4) to cells of target organs: Role of salvage pathway and uptake of its precursor in effective elevation of tissue BH4
|
Hasegawa, Hiroyuki
|
|
2005
|
|
S |
p. 2-10
9 p.
|
artikel
|
| 27 |
Developing treatments for inborn errors: incentives available to the clinician
|
Haffner, Marlene E
|
|
2004
|
|
S |
p. 63-66
4 p.
|
artikel
|
| 28 |
Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations — Neurological signs and symptoms
|
Shapiro, Elsa G.
|
|
2017
|
|
S |
p. 1-7
|
artikel
|
| 29 |
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
|
Blau, Nenad
|
|
2011
|
|
S |
p. S2-S9
8 p.
|
artikel
|
| 30 |
Disruption of prefrontal function and connectivity in individuals with phenylketonuria
|
Christ, Shawn E.
|
|
2010
|
|
S |
p. S33-S40
8 p.
|
artikel
|
| 31 |
Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes
|
van Rijn, Margreet
|
|
2011
|
|
S |
p. S68-S72
5 p.
|
artikel
|
| 32 |
Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?
|
Gokmen-Ozel, Hulya
|
|
2011
|
|
S |
p. S64-S67
4 p.
|
artikel
|
| 33 |
Early dietary treated patients with phenylketonuria can achieve normal growth and body composition
|
Rocha, Júlio C.
|
|
2013
|
|
S |
p. S40-S43
4 p.
|
artikel
|
| 34 |
Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study
|
Campeau, Philippe M.
|
|
2010
|
|
S |
p. S84-S87
4 p.
|
artikel
|
| 35 |
Editorial
|
Blau, Nenad
|
|
2011
|
|
S |
p. S1-
1 p.
|
artikel
|
| 36 |
Editorial Board
|
|
|
2005
|
|
S |
p. CO2-
1 p.
|
artikel
|
| 37 |
Editorial Board
|
|
|
2004
|
|
S |
p. IFC-
1 p.
|
artikel
|
| 38 |
Editorial Board
|
|
|
2011
|
|
S |
p. IFC-
1 p.
|
artikel
|
| 39 |
Editorial Board
|
|
|
2013
|
|
S |
p. IFC-
1 p.
|
artikel
|
| 40 |
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients
|
Scaglia, Fernando
|
|
2004
|
|
S |
p. 79-85
7 p.
|
artikel
|
| 41 |
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I
|
Summar, Marshall L
|
|
2004
|
|
S |
p. 12-19
8 p.
|
artikel
|
| 42 |
Epilepsy in mucopolysaccharidosis disorders
|
Scarpa, Maurizio
|
|
2017
|
|
S |
p. 55-61
|
artikel
|
| 43 |
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
|
Seminara, Jennifer
|
|
2010
|
|
S |
p. S97-S105
9 p.
|
artikel
|
| 44 |
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study
|
Demirdas, Serwet
|
|
2013
|
|
S |
p. S49-S56
8 p.
|
artikel
|
| 45 |
Event-related potential correlates of selective processing in early- and continuously-treated children with phenylketonuria: Effects of concurrent phenylalanine level and dietary control
|
de Sonneville, Leo M.J.
|
|
2010
|
|
S |
p. S10-S17
8 p.
|
artikel
|
| 46 |
Executive function in early-treated phenylketonuria: Profile and underlying mechanisms
|
Christ, Shawn E.
|
|
2010
|
|
S |
p. S22-S32
11 p.
|
artikel
|
| 47 |
Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria
|
Huijbregts, Stephan C.J.
|
|
2013
|
|
S |
p. S25-S30
6 p.
|
artikel
|
| 48 |
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study
|
Fiege, Betina
|
|
2005
|
|
S |
p. 91-95
5 p.
|
artikel
|
| 49 |
Final commentary: A new chapter
|
White, D.A.
|
|
2010
|
|
S |
p. S106-S107
2 p.
|
artikel
|
| 50 |
Five years of synergistic scientific effort on phenylketonuria therapeutic development and molecular understanding
|
Blau, Nenad
|
|
2005
|
|
S |
p. 1-
1 p.
|
artikel
|
| 51 |
Follow up of phenylketonuria patients
|
Demirkol, M.
|
|
2011
|
|
S |
p. S31-S39
9 p.
|
artikel
|
| 52 |
Future drug discovery and development
|
Hurko, Orest
|
|
2010
|
|
S |
p. S92-S96
5 p.
|
artikel
|
| 53 |
Future treatment strategies in phenylketonuria
|
van Spronsen, Francjan J.
|
|
2010
|
|
S |
p. S90-S95
6 p.
|
artikel
|
| 54 |
Genetic and cellular modifiers of oxidative stress: What can we learn from fatty acid oxidation defects?
|
Olsen, Rikke Katrine Jentoft
|
|
2013
|
|
S |
p. S31-S39
9 p.
|
artikel
|
| 55 |
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia
|
Deignan, Joshua L.
|
|
2010
|
|
S |
p. S31-S36
6 p.
|
artikel
|
| 56 |
Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism
|
Stanley, Charles A
|
|
2004
|
|
S |
p. 45-51
7 p.
|
artikel
|
| 57 |
Impaired glutamatergic synaptic transmission in the PKU brain
|
Martynyuk, A.E.
|
|
2005
|
|
S |
p. 34-42
9 p.
|
artikel
|
| 58 |
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients
|
Fiori, Laura
|
|
2005
|
|
S |
p. 67-74
8 p.
|
artikel
|
| 59 |
Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex
|
Møller, Lisbeth Birk
|
|
2005
|
|
S |
p. 119-123
5 p.
|
artikel
|
| 60 |
Introduction
|
Cederbaum, Stephen
|
|
2010
|
|
S |
p. S1-S2
2 p.
|
artikel
|
| 61 |
Is overweight an issue in phenylketonuria?
|
Rocha, Júlio C.
|
|
2013
|
|
S |
p. S18-S24
7 p.
|
artikel
|
| 62 |
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients
|
Pérez, Belén
|
|
2005
|
|
S |
p. 11-16
6 p.
|
artikel
|
| 63 |
Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects
|
Meyburg, Jochen
|
|
2010
|
|
S |
p. S77-S83
7 p.
|
artikel
|
| 64 |
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin
|
Trefz, Friedrich K.
|
|
2005
|
|
S |
p. 75-80
6 p.
|
artikel
|
| 65 |
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
|
Hennermann, Julia B.
|
|
2005
|
|
S |
p. 86-90
5 p.
|
artikel
|
| 66 |
Lysinuric protein intolerance: mechanisms of pathophysiology
|
Palacı́n, Manuel
|
|
2004
|
|
S |
p. 27-37
11 p.
|
artikel
|
| 67 |
Main issues in micronutrient supplementation in phenylketonuria
|
Lammardo, A.M.
|
|
2013
|
|
S |
p. S1-S5
5 p.
|
artikel
|
| 68 |
Mammalian N-acetylglutamate synthase
|
Morizono, Hiroki
|
|
2004
|
|
S |
p. 4-11
8 p.
|
artikel
|
| 69 |
Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
|
Pode-Shakked, Ben
|
|
2013
|
|
S |
p. S66-S70
5 p.
|
artikel
|
| 70 |
Measuring in vivo ureagenesis with stable isotopes
|
Yudkoff, Marc
|
|
2010
|
|
S |
p. S37-S41
5 p.
|
artikel
|
| 71 |
Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study
|
Jahja, Rianne
|
|
2013
|
|
S |
p. S57-S61
5 p.
|
artikel
|
| 72 |
Micronutrient status in phenylketonuria
|
Robert, M.
|
|
2013
|
|
S |
p. S6-S17
12 p.
|
artikel
|
| 73 |
Mouse model of encephalopathy and novel treatment strategies with substrate competition in glutaric aciduria type I
|
Zinnanti, William J.
|
|
2010
|
|
S |
p. S88-S91
4 p.
|
artikel
|
| 74 |
N-acetylglutamate synthase: structure, function and defects
|
Caldovic, Ljubica
|
|
2010
|
|
S |
p. S13-S19
7 p.
|
artikel
|
| 75 |
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?
|
Waters, Paula J.
|
|
2005
|
|
S |
p. 148-152
5 p.
|
artikel
|
| 76 |
Neurocognitive functioning in adults with phenylketonuria: Results of a long term study
|
Weglage, J.
|
|
2013
|
|
S |
p. S44-S48
5 p.
|
artikel
|
| 77 |
Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit
|
González, María J.
|
|
2011
|
|
S |
p. S73-S79
7 p.
|
artikel
|
| 78 |
New insights in nutritional management and amino acid supplementation in urea cycle disorders
|
Scaglia, Fernando
|
|
2010
|
|
S |
p. S72-S76
5 p.
|
artikel
|
| 79 |
Nitrogen sparing therapy revisited 2009
|
Enns, Gregory M.
|
|
2010
|
|
S |
p. S65-S71
7 p.
|
artikel
|
| 80 |
Nutrition in phenylketonuria
|
MacDonald, A.
|
|
2011
|
|
S |
p. S10-S18
9 p.
|
artikel
|
| 81 |
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency
|
Nalin, Tatiéle
|
|
2011
|
|
S |
p. S80-S85
6 p.
|
artikel
|
| 82 |
Outcomes beyond phenylalanine: An international perspective
|
Feillet, Francois
|
|
2010
|
|
S |
p. S79-S85
7 p.
|
artikel
|
| 83 |
Oxidative stress in phenylketonuric patients
|
Vargas, C.R.
|
|
2011
|
|
S |
p. S97-S99
3 p.
|
artikel
|
| 84 |
Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses
|
de Groot, M.J.
|
|
2010
|
|
S |
p. S86-S89
4 p.
|
artikel
|
| 85 |
Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses
|
Rapoport, David M.
|
|
2017
|
|
S |
p. 49-54
|
artikel
|
| 86 |
Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers
|
MacArthur, Robert B
|
|
2004
|
|
S |
p. 67-73
7 p.
|
artikel
|
| 87 |
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
|
Sarkissian, Christineh N.
|
|
2005
|
|
S |
p. 22-26
5 p.
|
artikel
|
| 88 |
Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients
|
Rivera, Isabel
|
|
2011
|
|
S |
p. S86-S92
7 p.
|
artikel
|
| 89 |
Phenylketonuria mutations in Northern China
|
Song, Fang
|
|
2005
|
|
S |
p. 107-118
12 p.
|
artikel
|
| 90 |
Plasma biopterin levels and tetrahydrobiopterin responsiveness
|
Shintaku, Haruo
|
|
2005
|
|
S |
p. 104-106
3 p.
|
artikel
|
| 91 |
Practical management of behavioral problems in mucopolysaccharidoses disorders
|
Escolar, Maria L.
|
|
2017
|
|
S |
p. 35-40
|
artikel
|
| 92 |
Problems in the management of urea cycle disorders
|
Wilcken, Bridget
|
|
2004
|
|
S |
p. 86-91
6 p.
|
artikel
|
| 93 |
Psychiatric symptoms and disorders in phenylketonuria
|
Brumm, V.L.
|
|
2010
|
|
S |
p. S59-S63
5 p.
|
artikel
|
| 94 |
Psychosocial aspects of PKU: Hidden disabilities – A review
|
Gentile, J.K.
|
|
2010
|
|
S |
p. S64-S67
4 p.
|
artikel
|
| 95 |
Psychosocial issues and outcomes in maternal PKU
|
Koch, Richard
|
|
2010
|
|
S |
p. S68-S74
7 p.
|
artikel
|
| 96 |
Quantitative neuroimaging in mucopolysaccharidoses clinical trials
|
Nestrasil, Igor
|
|
2017
|
|
S |
p. 17-24
|
artikel
|
| 97 |
Response of patients with phenylketonuria in the US to tetrahydrobiopterin
|
Matalon, Reuben
|
|
2005
|
|
S |
p. 17-21
5 p.
|
artikel
|
| 98 |
Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy
|
Oh, Hyun-Jeong
|
|
2005
|
|
S |
p. 124-132
9 p.
|
artikel
|
| 99 |
Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic
|
Waisbren, S.
|
|
2010
|
|
S |
p. S96-S99
4 p.
|
artikel
|
| 100 |
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper
|
Zurflüh, Marcel R.
|
|
2005
|
|
S |
p. 96-103
8 p.
|
artikel
|
| 101 |
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin
|
Bélanger-Quintana, Amaya
|
|
2005
|
|
S |
p. 61-66
6 p.
|
artikel
|
| 102 |
Specific prebiotics in a formula for infants with Phenylketonuria
|
MacDonald, Anita
|
|
2011
|
|
S |
p. S55-S59
5 p.
|
artikel
|
| 103 |
Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice
|
Scavelli, Rossana
|
|
2005
|
|
S |
p. 153-155
3 p.
|
artikel
|
| 104 |
Surgical management of neurological manifestations of mucopolysaccharidosis disorders
|
Alden, Tord D.
|
|
2017
|
|
S |
p. 41-48
|
artikel
|
| 105 |
Table of Contents
|
|
|
2010
|
|
S |
p. iii-iv
nvt p.
|
artikel
|
| 106 |
Table of Contents
|
|
|
2010
|
|
S |
p. iii-iv
nvt p.
|
artikel
|
| 107 |
Table of Contents
|
|
|
2005
|
|
S |
p. ii-iii
nvt p.
|
artikel
|
| 108 |
Table of contents
|
|
|
2004
|
|
S |
p. 1-2
2 p.
|
artikel
|
| 109 |
Table of Contents
|
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Tetrahydrobiopterin and maternal PKU
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Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience
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The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study
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The G46S-hPAH mutant protein: A model to study the rescue of aggregation-prone PKU mutations by chaperones
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The psychology and neuropathology of phenylketonuria
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The role of intelligence in phenylketonuria: A review of research and management
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The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles
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Treatment of brain disease in the mucopolysaccharidoses
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Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?
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Use of amplitude integrated electroencephalography (aEEG) in patients with inborn errors of metabolism – A new tool for the metabolic geneticist
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White matter pathology in phenylketonuria
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