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Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

International journal of neonatal screening, 2021-04, Vol.7 (2), p.21

2021

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Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

International journal of neonatal screening, 2020-07, Vol.6 (3), p.1

2020

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Time Trend and Geographic Distribution of Treated Patients with Congenital Hypothyroidism Relative to the Number of Available Endocrinologists in Japan

The Journal of pediatrics, 2010-07, Vol.157 (1), p.153-157

2010

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Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors

Thyroid (New York, N.Y.), 2009-08, Vol.19 (8), p.869-879

2009

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Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years

Annals of the Academy of Medicine, Singapore, 2008-12, Vol.37 (12 Suppl), p.77

2008

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Seasonality in the incidence of congenital hypothyroidism in Japan: gender-specific patterns and correlation with temperature

Thyroid (New York, N.Y.), 2007-09, Vol.17 (9), p.869-874

2007

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Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan

Pediatrics international, 2007-08, Vol.49 (4), p.443-446

2007

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Original Article: Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan

Pediatrics international, 2007-08, Vol.49 (4), p.443

2007

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Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

Pediatric research, 2004-03, Vol.55 (3), p.425-430

2004

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Newborn screening in Japan

Southeast Asian journal of tropical medicine and public health, 2003, Vol.34 Suppl 3, p.80-80

Aoki, Kikumaro

2003

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Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan

Southeast Asian journal of tropical medicine and public health, 2003, Vol.34 Suppl 3, p.19-23

Aoki, Kikumaro

2003

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Taste preferences and feeding behaviour in children with phenylketonuria on a semisynthetic diet

European journal of pediatrics, 2000-11, Vol.159 (11), p.846-850

2000

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Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study

Pediatrics international, 1999-04, Vol.41 (2), p.132-137

1999

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Outcome of the Patients Detected by Newborn Screening in Japan

Pediatrics international, 1988-08, Vol.30 (4), p.429-434

1988

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Treatment of Phenylketonuria with a Formula Consisting of Low-Phenylalanine Peptide

Enzyme (Basel), 1987-12, Vol.38 (1-4), p.321-327

1987

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Quick screening and diagnosis of organic acidemia by NMR urinalysis

The Journal of pediatrics, 1985-04, Vol.106 (4), p.620-622

1985

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RAPID SCREENING OF METABOLIC DISEASE BY PROTON NMR URINALYSIS

The Lancet (British edition), 1984-08, Vol.324 (8397), p.284-284

1984

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特殊ミルク

ファルマシア, 1983/06/01, Vol.19(6), pp.570-574

青木, 菊麿

1983

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Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan

The Journal of pediatrics, 1982-10, Vol.101 (4), p.562-563

1982

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Disaggregation of polyribosomes and depletion of amino acids in brain tissue after a single injection of amino acid in young rats

Journal of inherited metabolic disease, 1982-03, Vol.5 (S1), p.2-2

Aoki, Kikumaro

1982

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Intellectual development in patients with untreated histidinemia

The Journal of pediatrics, 1982, Vol.101 (4), p.562-563

1982

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Histidinemia: biochemical parameters for diagnosis

American journal of diseases of children (1960), 1981-03, Vol.135 (3), p.227

1981

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Effects of macromolecular compounds on human leukocyte β-galactosidase activity

Clinica chimica acta, 1978-04, Vol.85 (2), p.151-157

1978

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Bile lysosomal enzymes; characteristics and pathological significance for various hepatobiliary disorders

Clinica chimica acta, 1977-09, Vol.79 (2), p.291-298

1977

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Hyperphenylalaninemia: Disaggregation of Brain Polyribosomes in Young Rats

Science (American Association for the Advancement of Science), 1970-04, Vol.168 (3927), p.129-130

1970

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Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

Time Trend and Geographic Distribution of Treated Patients with Congenital Hypothyroidism Relative to the Number of Available Endocrinologists in Japan

Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors

Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years

Seasonality in the incidence of congenital hypothyroidism in Japan: gender-specific patterns and correlation with temperature

Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan

Original Article: Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

Newborn screening in Japan

Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan

Taste preferences and feeding behaviour in children with phenylketonuria on a semisynthetic diet

Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study

Outcome of the Patients Detected by Newborn Screening in Japan

Treatment of Phenylketonuria with a Formula Consisting of Low-Phenylalanine Peptide

Quick screening and diagnosis of organic acidemia by NMR urinalysis

RAPID SCREENING OF METABOLIC DISEASE BY PROTON NMR URINALYSIS

特殊ミルク

Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan

Disaggregation of polyribosomes and depletion of amino acids in brain tissue after a single injection of amino acid in young rats

Intellectual development in patients with untreated histidinemia

Histidinemia: biochemical parameters for diagnosis

Effects of macromolecular compounds on human leukocyte β-galactosidase activity

Bile lysosomal enzymes; characteristics and pathological significance for various hepatobiliary disorders

Hyperphenylalaninemia: Disaggregation of Brain Polyribosomes in Young Rats

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