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                             34 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations Choi, Jae Hyuk
 2011
 104 1-2 p. 185-188
4 p.
 artikel
2 An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions El-Gharbawy, Areeg H.
 2011
 104 1-2 p. 118-122
5 p.
 artikel
3 Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? Jain-Ghai, Shailly
 2011
 104 1-2 p. 107-111
5 p.
 artikel
4 Down syndrome: Issues to consider in a national registry, research database and biobank McCabe, Linda L.
 2011
 104 1-2 p. 10-12
3 p.
 artikel
5 Down syndrome: National conference on patient registries, research databases, and biobanks Oster-Granite, Mary Lou
 2011
 104 1-2 p. 13-22
10 p.
 artikel
6 Editorial Board 2011
 104 1-2 p. IFC-
1 p.
 artikel
7 Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients Humphrey, Maureen
 2011
 104 1-2 p. 89-92
4 p.
 artikel
8 Epigenetics and the developmental origins of lung disease Joss-Moore, Lisa A.
 2011
 104 1-2 p. 61-66
6 p.
 artikel
9 Experimental evidence of oxidative stress in plasma of homocystinuric patients: A possible role for homocysteine Vanzin, Camila Simioni
 2011
 104 1-2 p. 112-117
6 p.
 artikel
10 Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells Kawagoe, Shiho
 2011
 104 1-2 p. 123-128
6 p.
 artikel
11 Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies Vladutiu, Georgirene D.
 2011
 104 1-2 p. 167-173
7 p.
 artikel
12 β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease Moraitou, Marina
 2011
 104 1-2 p. 149-152
4 p.
 artikel
13 How the practice of allergy shows the promise and challenge of personalized medicine McGhee, Sean A.
 2011
 104 1-2 p. 3-6
4 p.
 artikel
14 Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies Davit-Spraul, Anne
 2011
 104 1-2 p. 137-143
7 p.
 artikel
15 Moving toward personalized cell-based interventions for adrenal cortical disorders: Part 1 — Adrenal development and function, and roles of transcription factors and signaling proteins Mazilu, Jaime K.
 2011
 104 1-2 p. 72-79
8 p.
 artikel
16 Moving toward personalized cell-based interventions for adrenal cortical disorders: Part 2 — Human diseases and tissue engineering Mazilu, Jaime K.
 2011
 104 1-2 p. 80-88
9 p.
 artikel
17 Mucolipidosis II complicated by severe pulmonary hypertension Kovacevic, Alexander
 2011
 104 1-2 p. 192-193
2 p.
 artikel
18 NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT John, Gerrit
 2011
 104 1-2 p. 174-179
6 p.
 artikel
19 Non-PKU mild hyperphenylalaninemia (MHP) — The dilemma Hanley, W.B.
 2011
 104 1-2 p. 23-26
4 p.
 artikel
20 Personalized genomic medicine: Lessons from the exome Solomon, Benjamin D.
 2011
 104 1-2 p. 189-191
3 p.
 artikel
21 Personalized medicine for individuals with Down syndrome McCabe, Linda L.
 2011
 104 1-2 p. 7-9
3 p.
 artikel
22 Pyridoxine dependent epilepsy and antiquitin deficiency Stockler, Sylvia
 2011
 104 1-2 p. 48-60
13 p.
 artikel
23 Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease van der Beek, N.A.M.E.
 2011
 104 1-2 p. 129-136
8 p.
 artikel
24 RNA expressions of AHR, ARNT and CYP1B1 are influenced by AHR Arg554Lys polymorphism Helmig, Simone
 2011
 104 1-2 p. 180-184
5 p.
 artikel
25 Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx Strauss, Kevin A.
 2011
 104 1-2 p. 93-106
14 p.
 artikel
26 Tablel of Contents 2011
 104 1-2 p. iii-v
nvt p.
 artikel
27 The contribution of the mitochondrial COI/tRNA Ser(UCN) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients Rydzanicz, Małgorzata
 2011
 104 1-2 p. 153-159
7 p.
 artikel
28 The enigma of the E326K mutation in acid β-glucocerebrosidase Horowitz, Mia
 2011
 104 1-2 p. 35-38
4 p.
 artikel
29 The evolution of the search for novel genes in mammalian sex determination: From mice to men Arboleda, Valerie A.
 2011
 104 1-2 p. 67-71
5 p.
 artikel
30 The neurology of biotinidase deficiency Wolf, Barry
 2011
 104 1-2 p. 27-34
8 p.
 artikel
31 The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives Reuser, Arnold J.
 2011
 104 1-2 p. 144-148
5 p.
 artikel
32 The use of individual patient's fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases Saada, Ann
 2011
 104 1-2 p. 39-47
9 p.
 artikel
33 Thoroughly modern medicine Arnold, Georgianne L.
 2011
 104 1-2 p. 1-2
2 p.
 artikel
34 X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism Wang, Ying
 2011
 104 1-2 p. 160-166
7 p.
 artikel
                             34 gevonden resultaten
 
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