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                             21 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics Burton, Barbara K.
2013
108 1 p. 8-12
5 p.
artikel
2 Association between the SPRY1 gene polymorphism and obesity-related traits and osteoporosis in Korean women Jin, Hyun-Seok
2013
108 1 p. 95-101
7 p.
artikel
3 Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C Walterfang, Mark
2013
108 1 p. 85-89
5 p.
artikel
4 Corrigendum to “Rapid clearance of supplemented tetrahydrobiopterin is driven by high-capacity transporters in the kidney” [Molecular Genetics and Metabolism 105/4 (2012) 575–581] Ohashi, Akiko
2013
108 1 p. 107-
1 p.
artikel
5 Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2 Breen, C.
2013
108 1 p. 82-84
3 p.
artikel
6 Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene Honzik, Tomas
2013
108 1 p. 102-105
4 p.
artikel
7 Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation Seminotti, Bianca
2013
108 1 p. 30-39
10 p.
artikel
8 Editorial Board 2013
108 1 p. IFC-
1 p.
artikel
9 Effects of cyclodextrin in two patients with Niemann–Pick Type C disease Matsuo, Muneaki
2013
108 1 p. 76-81
6 p.
artikel
10 GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: A potential model for Tay Sachs disease Sanders, Douglas N.
2013
108 1 p. 70-75
6 p.
artikel
11 High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations Lee, Beom Hee
2013
108 1 p. 18-24
7 p.
artikel
12 Impact of geographic access to care on compliance and metabolic control in phenylketonuria Freehauf, Cynthia
2013
108 1 p. 13-17
5 p.
artikel
13 Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation Nagao, Masayoshi
2013
108 1 p. 25-29
5 p.
artikel
14 Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase Pierson, Tyler Mark
2013
108 1 p. 65-69
5 p.
artikel
15 Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity Yap, Thai Leong
2013
108 1 p. 56-64
9 p.
artikel
16 Metallothionein 2a gene expression is increased in subcutaneous adipose tissue of type 2 diabetic patients Haynes, Vanessa
2013
108 1 p. 90-94
5 p.
artikel
17 Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations Siriwardena, Komudi
2013
108 1 p. 40-50
11 p.
artikel
18 Neonatal chitotriosidase activity is not predictive for Niemann–Pick disease type A/B: Implications for newborn screening for lysosomal storage disorders Porta, Francesco
2013
108 1 p. 106-
1 p.
artikel
19 Sequencing from dried blood spots in infants with “false positive” newborn screen for MCAD deficiency McCandless, Shawn E.
2013
108 1 p. 51-55
5 p.
artikel
20 Table of Contents 2013
108 1 p. iii-iv
nvt p.
artikel
21 Visual functions in phenylketonuria—evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses Gramer, Gwendolyn
2013
108 1 p. 1-7
7 p.
artikel
                             21 gevonden resultaten
 
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