LE WE PMID CA
Phenylketonuria2185Phenylketonurie

Amino acid (Aromatic)

Angelman s syndrome

Aromatic L amino acid decarboxylase

Autism

Catch22

CMV

Cornelia de Lange syndrome

Dopamine

Down s syndrome

Fragile X syndrome

HOXA1

Hyperphenylalaninemia

MECP2

Neurofibromatosis

Neuroligin3 NLGN3

Neuroligin4 NLGN4

NRXN1 Neurexin1

Phenylalanine hydroxylase

Phenylketonuria

PTEN MMAC1 TEP1

Rett s syndrome

Rubella

Serotonin

SHANK3

Tetrahydrobiopterin

Thalidomide

Tryptophan hydroxylase

Tuberous sclerosis

Tyrosine hydroxylase

Valproic acid

2009  
1
Adult issues in phenylketonuria.
[19155540] Neth J Med 67(1): 2-7 (2009)
1999  
2
Review: emotional and behavioral functioning in phenylketonuria.
[10379143] J Pediatr Psychol 24(3): 281-99 (1999)
1996  
3
Tyrosine supplementation for phenylketonuria treatment.
[8942426] Am J Clin Nutr 64(6): 974-5 (1996)
1975  
4
Phenylketonuria: metabolic alterations induced by phenylalanine and phenylpyruvate.
[234671] Am J Clin Nutr 28(2): 183-8 (1975)
1995  
5
Late effects of phenylketonuria.
[8546499] Arch Dis Child 73(6): 485-6 (1995)
1993  
6
Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria.
[8466250] Arch Dis Child 68(3): 426-7 (1993)
1971  
7
Phenylketonuria and its variations. A review of recent developments.
[4935772] Calif Med 115(1): 42-57 (1971)
2008  
8
Adverse medical outcomes of early newborn screening programs for phenylketonuria.
[18596006] Pediatrics 122(1): 192-7 (2008)
2003  
9
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.
[14654665] Pediatrics 112(6 Pt 2): 1557-65 (2003)
2003  
10
The Maternal Phenylketonuria International Study: 1984-2002.
[14654658] Pediatrics 112(6 Pt 2): 1523-9 (2003)
2003  
11
Historical background for the maternal PKU syndrome.
[14654656] Pediatrics 112(6 Pt 2): 1516-8 (2003)
1970  
12
1979  
13
Phenylketonuria and its variants.
[506223] West J Med 131(4): 324-6 (1979)
1979  
14
Diseases of phenylalanine metabolism.
[388868] West J Med 131(4): 285-97 (1979)
2005  
15
Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter.
[16040919] Radiology 236(2): 630-6 (2005)
2011  
16
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.
[21708003] Orphanet J Rare Dis 6(-): 48 (2011)
2007  
17
Management of phenylketonuria and hyperphenylalaninemia.
[17513425] J Nutr 137(6 Suppl 1): 1561S-1563S; discussion 1573S-1575S (2007)
2007  
18
Response of phenylketonuria to tetrahydrobiopterin.
[17513426] J Nutr 137(6 Suppl 1): 1564S-1567S; discussion 1573S-1575S (2007)
2007  
19
Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids.
[17513427] J Nutr 137(6 Suppl 1): 1568S-1572S; discussion 1573S-1575S (2007)
2009  
20
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.
[18728070] J Med Genet 46(1): 1-8 (2009)
2010  
21
Large neutral amino acids in the treatment of PKU: from theory to practice.
[20976625] J Inherit Metab Dis 33(6): 671-6 (2010)

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