-
1
-
-
84881349966
-
Newborn screening 50 years later: Access issues faced by adults with PKU
-
Berry SA, Brown C, Grant M, et al. Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med 2013; 15: 591-599. This review summarizes the prevalence of PKU and individual patient, social and economic factors preventing more than 70% of adults PKU patients in the United States from accessing treatment.
-
(2013)
Genet Med
, vol.15
, pp. 591-599
-
-
Berry, S.A.1
Brown, C.2
Grant, M.3
-
2
-
-
84875353256
-
Phenylalanine hydroxylase: Function, structure, and regulation
-
Flydal MI, Martinez A. Phenylalanine hydroxylase: function, structure, and regulation. IUBMB Life 2013; 65: 341-349.
-
(2013)
IUBMB Life
, vol.65
, pp. 341-349
-
-
Flydal, M.I.1
Martinez, A.2
-
3
-
-
84884349887
-
-
Rockville, MD: Agency for Healthcare Research and Quality; Feb, AHRQ Publication No 12-EHC035-EF
-
Lindegren M, Krishnaswami S, Fonnesbeck C, et al. Adjuvant treatment for phenylketonuria (PKU). Comparative effectiveness review No. 56. Rockville, MD: Agency for Healthcare Research and Quality; Feb 2012; AHRQ Publication No 12-EHC035-EF. Systematic review of evidence on adjuvant treatment of PKU, including sapropterin dihydrochloride (BH4) and large neutral amino acid supplementation, conducted by the Vanderbilt Evidence-Based Practice Center under contract to the Agency for Healthcare Research and Quality and presented at the NIH Scientific Review of Evidence for PKU conference held February 2012.
-
(2012)
Adjuvant Treatment for Phenylketonuria (PKU). Comparative Effectiveness Review No. 56
-
-
Lindegren, M.1
Krishnaswami, S.2
Fonnesbeck, C.3
-
4
-
-
84891032575
-
ACMG guideline for phenylalanine hydroxylase (PAH) deficiency: Diagnosis and management
-
In press
-
Vockley J, Andersson HC, Antshel KM, et al. ACMG guideline for phenylalanine hydroxylase (PAH) deficiency: diagnosis and management. Genet Med 2014; In press. Recommendations for the treatment of PKU based in part on a comparative effectiveness reviewconducted by the Vanderbilt Evidence-Based Practice Center under contract to the Agency for Healthcare Research and Quality and presented at the NIH Scientific Review of Evidence for PKU conference held February 2012.
-
(2014)
Genet Med
-
-
Vockley, J.1
Andersson, H.C.2
Antshel, K.M.3
-
5
-
-
84866179926
-
Nutritional treatment for inborn errors of metabolism: Indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example
-
Camp KM, Lloyd-Puryear MA, Huntington KL. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol Genet Metab 2012; 107: 3-9.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 3-9
-
-
Camp, K.M.1
Lloyd-Puryear, M.A.2
Huntington, K.L.3
-
6
-
-
84875256038
-
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
-
Hartnett C, Salvarinova-Zivkovic R, Yap-Todos E, et al. Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. Mol Genet Metab 2013; 108: 255-258.
-
(2013)
Mol Genet Metab
, vol.108
, pp. 255-258
-
-
Hartnett, C.1
Salvarinova-Zivkovic, R.2
Yap-Todos, E.3
-
7
-
-
84864138755
-
Food products made with glycomacropeptide, a lowphenylalanine whey protein, provide a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria
-
Van Calcar SC, Ney DM. Food products made with glycomacropeptide, a lowphenylalanine whey protein, provide a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria. J Acad Nutr Diet 2012; 112: 1201-1210. Review of evidence and future research needs for utilization of GMP medical foods in the PKU diet.
-
(2012)
J Acad Nutr Diet
, vol.112
, pp. 1201-1210
-
-
Van Calcar, S.C.1
Ney, D.M.2
-
8
-
-
84878502615
-
White matter integrity and executive abilities in individuals with phenylketonuria
-
Antenor-Dorsey JA, Hershey T, Rutlin J, et al. White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab 2013; 109: 125-131.
-
(2013)
Mol Genet Metab
, vol.109
, pp. 125-131
-
-
Antenor-Dorsey, J.A.1
Hershey, T.2
Rutlin, J.3
-
9
-
-
84858702108
-
Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients
-
de Groot MJ, Hoeksma M, van Rijn M, et al. Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients. Mol Genet Metab 2012; 105: 566-570.
-
(2012)
Mol Genet Metab
, vol.105
, pp. 566-570
-
-
De Groot, M.J.1
Hoeksma, M.2
Van Rijn, M.3
-
10
-
-
84884350808
-
Chronic kidney disease in adolescent and adult patients with phenylketonuria
-
Hennermann JB, Roloff S, Gellermann J, et al. Chronic kidney disease in adolescent and adult patients with phenylketonuria. J Inherit Metab Dis 2013; 36: 747-756.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 747-756
-
-
Hennermann, J.B.1
Roloff, S.2
Gellermann, J.3
-
11
-
-
0034490342
-
Biological activities of bovine glycomacropeptide
-
Brody EP. Biological activities of bovine glycomacropeptide. Br J Nutr 2000; 84 (Suppl 1):S39-S46. (Pubitemid 32106828)
-
(2000)
British Journal of Nutrition
, vol.84
, Issue.SUPPL. 1
-
-
Brody, E.P.1
-
12
-
-
59749087136
-
Nutritional management of PKU with glycomacropeptide from cheese whey
-
Ney DM, Gleason ST, van Calcar SC, et al. Nutritional management of PKU with glycomacropeptide from cheese whey. J Inherit Metab Dis 2009; 32: 32-39.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 32-39
-
-
Ney, D.M.1
Gleason, S.T.2
Van Calcar, S.C.3
-
13
-
-
63649146562
-
Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids
-
Van Calcar SC, Macleod EL, Gleason ST, et al. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am J Clin Nutr 2009; 89: 1068-1077.
-
(2009)
Am J Clin Nutr
, vol.89
, pp. 1068-1077
-
-
Van Calcar, S.C.1
Macleod, E.L.2
Gleason, S.T.3
-
14
-
-
84859461332
-
Glycomacropeptide, a lowphenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuria
-
Solverson P, Murali SG, Brinkman AS, et al. Glycomacropeptide, a lowphenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuria. Am J Physiol Endocrinol Metab 2012; 302:E885-E895.
-
(2012)
Am J Physiol Endocrinol Metab
, vol.302
-
-
Solverson, P.1
Murali, S.G.2
Brinkman, A.S.3
-
15
-
-
84874673304
-
Ameliorating effects of casein glycomacropeptide on obesity induced by high-fat diet in male Sprague-Dawley rats
-
Xu SP, Mao XY, Cheng X, Chen B. Ameliorating effects of casein glycomacropeptide on obesity induced by high-fat diet in male Sprague-Dawley rats. Food Chem Toxicol 2013; 56: 1-7.
-
(2013)
Food Chem Toxicol
, vol.56
, pp. 1-7
-
-
Xu, S.P.1
Mao, X.Y.2
Cheng, X.3
Chen, B.4
-
16
-
-
84866150573
-
High prevalence of overweight and obesity in females with phenylketonuria
-
Burrage LC, McConnell J, Haesler R, et al. High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab 2012; 107: 43-48.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 43-48
-
-
Burrage, L.C.1
McConnell, J.2
Haesler, R.3
-
17
-
-
0035007138
-
The digestion rate of protein is an independent regulating factor of postprandial protein retention
-
Dangin M, Boirie Y, Garcia-Rodenas C, et al. The digestion rate of protein is an independent regulating factor of postprandial protein retention. Am J Physiol Endocrinol Metab 2001; 280:E340-E348.
-
(2001)
Am J Physiol Endocrinol Metab
, vol.280
-
-
Dangin, M.1
Boirie, Y.2
Garcia-Rodenas, C.3
-
18
-
-
77954229363
-
Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria
-
Macleod EL, Clayton MK, van Calcar SC, Ney DM. Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol Genet Metab 2011; 100: 303-308.
-
(2011)
Mol Genet Metab
, vol.100
, pp. 303-308
-
-
Macleod, E.L.1
Clayton, M.K.2
Van Calcar, S.C.3
Ney, D.M.4
-
19
-
-
0031001009
-
Fractures and phenylketonuria
-
Greeves LG, Carson DJ, Magee A, Patterson CC. Fractures and phenylketonuria. Acta Paediatr 1997; 86: 242-244. (Pubitemid 27135268)
-
(1997)
Acta Paediatrica, International Journal of Paediatrics
, vol.86
, Issue.3
, pp. 242-244
-
-
Greeves, L.G.1
Carson, D.J.2
Magee, A.3
Patterson, C.C.4
-
20
-
-
33947635001
-
Peak bone mass in patients with phenylketonuria
-
DOI 10.1007/s10545-007-0462-9
-
Modan-Moses D, Vered I, Schwartz G, et al. Peak bone mass in patients with phenylketonuria. J Inherit Metab Dis 2007; 30: 202-208. (Pubitemid 46488002)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.2
, pp. 202-208
-
-
Modan-Moses, D.1
Vered, I.2
Schwartz, G.3
Anikster, Y.4
Abraham, S.5
Segev, R.6
Efrati, O.7
-
21
-
-
0026764376
-
Bone mineral status in children with phenylketonuria: Relationship to nutritional intake and phenylalanine control
-
McMurry MP, Chan GM, Leonard CO, Ernst SL. Bone mineral status in children with phenylketonuria: relationship to nutritional intake and phenylalanine control. Am J Clin Nutr 1992; 55: 997-1004.
-
(1992)
Am J Clin Nutr
, vol.55
, pp. 997-1004
-
-
McMurry, M.P.1
Chan, G.M.2
Leonard, C.O.3
Ernst, S.L.4
-
22
-
-
84874018848
-
Risk factors for developing mineral bone disease in phenylketonuric patients
-
Miras A, Boveda MD, Leis MR, et al. Risk factors for developing mineral bone disease in phenylketonuric patients. Mol Genet Metab 2013; 108: 149-154.
-
(2013)
Mol Genet Metab
, vol.108
, pp. 149-154
-
-
Miras, A.1
Boveda, M.D.2
Leis, M.R.3
-
23
-
-
84866509174
-
Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet
-
Solverson P, Murali SG, Litscher SJ, et al. Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet. PloS One 2012; 7:e45165. This study characterizes the PKU bone phenotype and the contributions of genotype and dietary protein source to the bone phenotype in Pahenu2 mice.
-
(2012)
PloS One
, vol.7
-
-
Solverson, P.1
Murali, S.G.2
Litscher, S.J.3
-
24
-
-
0035313653
-
From Wolff's law to the Utah paradigm: Insights about bone physiology and its clinical applications
-
DOI 10.1002/ar.1049
-
Frost HM. From Wolff's law to the Utah paradigm: insights about bone physiology and its clinical applications. Anat Rec 2001; 262: 398-419. (Pubitemid 32250965)
-
(2001)
Anatomical Record
, vol.262
, Issue.4
, pp. 398-419
-
-
Frost, H.M.1
-
25
-
-
84890988225
-
Adaptive and injury response of bone to mechanical loading
-
McBride SH, Silva MJ. Adaptive and injury response of bone to mechanical loading. Bonekey Osteovision 2012; 1:192.
-
(2012)
Bonekey Osteovision
, vol.1
, pp. 192
-
-
McBride, S.H.1
Silva, M.J.2
-
26
-
-
76549123888
-
Collagen cross-links as a determinant of bone quality: A possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus
-
Saito M, Marumo K. Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus. Osteoporos Int 2010; 21: 195-214.
-
(2010)
Osteoporos Int
, vol.21
, pp. 195-214
-
-
Saito, M.1
Marumo, K.2
-
27
-
-
84873948364
-
Pharmacological inhibition of PPARgamma increases osteoblastogenesis and bone mass in male C57BL/6 mice
-
Duque G, Li W, Vidal C, et al. Pharmacological inhibition of PPARgamma increases osteoblastogenesis and bone mass in male C57BL/6 mice. J Bone Miner Res 2013; 28: 639-648.
-
(2013)
J Bone Miner Res
, vol.28
, pp. 639-648
-
-
Duque, G.1
Li, W.2
Vidal, C.3
-
28
-
-
0017699342
-
Acid base status in dietary treatment of phenylketonuria
-
Manz F, Schmidt H, Scharer K, Bickel H. Acid-base status in dietary treatment of phenylketonuria. Pediatr Res 1977; 11 (10 Pt 2): 1084-1087. (Pubitemid 8228139)
-
(1977)
Pediatric Research
, vol.11
, Issue.10
, pp. 1084-1087
-
-
Manz, F.1
Schmidt, H.2
Schaerer, K.3
Bickel, H.4
-
29
-
-
79960698055
-
Diet-induced metabolic acidosis
-
Adeva MM, Souto G. Diet-induced metabolic acidosis. Clin Nutr 2011; 30: 416-421.
-
(2011)
Clin Nutr
, vol.30
, pp. 416-421
-
-
Adeva, M.M.1
Souto, G.2
-
30
-
-
0024401970
-
Net calcium efflux from live bone during chronic metabolic, but not respiratory, acidosis
-
Bushinsky DA. Net calcium efflux from live bone during chronic metabolic, but not respiratory, acidosis. Am J Physiol 1989; 2565Pt2:F836-F842.
-
(1989)
Am J Physiol
, vol.2565
, Issue.PART 2
-
-
Bushinsky, D.A.1
-
31
-
-
84872053507
-
Effect of potassium citrate on bone density, microarchitecture, and fracture risk in healthy older adults without osteoporosis: A randomized controlled trial
-
Jehle S, Hulter HN, Krapf R. Effect of potassium citrate on bone density, microarchitecture, and fracture risk in healthy older adults without osteoporosis: a randomized controlled trial. J Clin Endocrinol Metab 2013; 98: 207-217.
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. 207-217
-
-
Jehle, S.1
Hulter, H.N.2
Krapf, R.3
-
32
-
-
84884343104
-
Does the PKU diet contribute to impaired renal function?
-
Ney DM. Does the PKU diet contribute to impaired renal function? J Inherit Metab Dis 2013; 36: 903-904.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 903-904
-
-
Ney, D.M.1
-
33
-
-
79952551959
-
Large neutral amino acids in the treatment of PKU: From theory to practice
-
van Spronsen FJ, de Groot MJ, Hoeksma M, et al. Large neutral amino acids in the treatment of PKU: from theory to practice. J Inherit Metab Dis 2010; 33: 671-676.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 671-676
-
-
Van Spronsen, F.J.1
De Groot, M.J.2
Hoeksma, M.3
-
34
-
-
84877772598
-
Nonphysiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: Pilot studies in PAH (ENU2) mice
-
Vogel KR, Arning E, Wasek BL, et al. Nonphysiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAH (ENU2) mice. J Inherit Metab Dis 2013; 36: 513-523. Studies in Pahenu2 mice provide proof-of-principle for the use of nonphysiological amino acids to act as competitive inhibitors of brain amino acid transporters.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 513-523
-
-
Vogel, K.R.1
Arning, E.2
Wasek, B.L.3
-
35
-
-
84876671171
-
Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: A new biomarker
-
This study demonstrates that levels of melatonin in blood and urine are an accessible biomarker reflecting brain serotonin synthesis in patients with PKU
-
Yano S, Moseley K, Azen C. Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker. J Pediatr 2012; 162: 999-1003. This study demonstrates that levels of melatonin in blood and urine are an accessible biomarker reflecting brain serotonin synthesis in patients with PKU.
-
(2012)
J Pediatr
, vol.162
, pp. 999-1003
-
-
Yano, S.1
Moseley, K.2
Azen, C.3
-
37
-
-
0029072351
-
Nutritional value of essential amino acids in the treatment of adults with phenylketonuria
-
Dotremont H, Francois B, Diels M, Gillis P. Nutritional value of essential amino acids in the treatment of adults with phenylketonuria. J Inherit Metab Dis 1995; 18: 127-130.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 127-130
-
-
Dotremont, H.1
Francois, B.2
Diels, M.3
Gillis, P.4
-
38
-
-
34047251011
-
The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study
-
DOI 10.1016/j.ymgme.2007.02.002, PII S1096719207000674
-
Schindeler S, Ghosh-Jerath S, Thompson S, et al. The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Mol Genet Metab 2007; 91: 48-54. (Pubitemid 46550929)
-
(2007)
Molecular Genetics and Metabolism
, vol.91
, Issue.1
, pp. 48-54
-
-
Schindeler, S.1
Ghosh-Jerath, S.2
Thompson, S.3
Rocca, A.4
Joy, P.5
Kemp, A.6
Rae, C.7
Green, K.8
Wilcken, B.9
Christodoulou, J.10
-
39
-
-
84879420029
-
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria
-
[Epub ahead of print]
-
Heintz C, Cotton RG, Blau N. Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum Mutat 2013. [Epub ahead of print]. Detailed review of the phenylalanine hydroxylase system and the genetic, molecular, and metabolic basis for response to tetrahydrobiopterin therapy in PKU.
-
(2013)
Hum Mutat
-
-
Heintz, C.1
Cotton, R.G.2
Blau, N.3
-
40
-
-
84878745685
-
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study
-
Keil S, Anjema K, van Spronsen FJ, et al. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics 2013; 131:e1881-e1888.
-
(2013)
Pediatrics
, vol.131
-
-
Keil, S.1
Anjema, K.2
Van Spronsen, F.J.3
-
41
-
-
79958701858
-
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
-
Staudigl M, Gersting SW, Danecka MK, et al. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet 2011; 20: 2628-2641.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2628-2641
-
-
Staudigl, M.1
Gersting, S.W.2
Danecka, M.K.3
|