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  1. Article: Diagnosis in relationship to treatment of hyperphenylalaninaemia.

    Blaskovics, M E

    Journal of inherited metabolic disease

    1986  Volume 9 Suppl 2, Page(s) 178–182

    Abstract: PKU is not a single simply defined entity. It is part of a spectrum of the hyperphenylalaninaemias. Natural protein loading studies with uniform Phe equivalents are simple, and they are an inexpensive and safe way to determine or categorize the types of ... ...

    Abstract PKU is not a single simply defined entity. It is part of a spectrum of the hyperphenylalaninaemias. Natural protein loading studies with uniform Phe equivalents are simple, and they are an inexpensive and safe way to determine or categorize the types of hyperphenylalaninaemias (excluding defects of biopterin). Evidence from the US PKU Collaborative Study indicates that all patients with PKU do not require indefinite or prolonged restrictive dietary therapy to maintain normal intellectual functioning. Although there are as yet no absolute criteria, it appears that the milder forms of PKU may need treatment for a shorter period of time.
    MeSH term(s) Animals ; Humans ; Intelligence ; Milk/metabolism ; Phenylalanine/blood ; Phenylalanine/metabolism ; Phenylketonurias/diagnosis ; Phenylketonurias/diet therapy
    Chemical Substances Phenylalanine (47E5O17Y3R)
    Language English
    Publishing date 1986
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1007/bf01799702
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Diagnostic considerations in phenylalaninemic subjects before and after dietary therapy.

    Blaskovics, M E

    Irish medical journal

    1976  Volume 69, Issue 15, Page(s) 410–414

    MeSH term(s) Humans ; Methods ; Phenylalanine/blood ; Phenylketonurias/classification ; Phenylketonurias/diagnosis ; Phenylketonurias/diet therapy
    Chemical Substances Phenylalanine (47E5O17Y3R)
    Language English
    Publishing date 1976-09-30
    Publishing country Ireland
    Document type Journal Article
    ZDB-ID 193134-9
    ISSN 0332-3102 ; 0021-129X
    ISSN 0332-3102 ; 0021-129X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Phenylketonuria and other phenylalaninaemias.

    Blaskovics, M E

    Clinics in endocrinology and metabolism

    1974  Volume 3, Issue 1, Page(s) 87–105

    MeSH term(s) Adult ; Amino Acid Metabolism, Inborn Errors/classification ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/metabolism ; Ascorbic Acid/metabolism ; Child ; Diet ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mass Screening ; Phenylalanine/metabolism ; Phenylalanine/urine ; Phenylalanine Hydroxylase/metabolism ; Phenylketonurias/diagnosis ; Phenylketonurias/metabolism ; Phenylketonurias/urine ; Time Factors
    Chemical Substances Phenylalanine (47E5O17Y3R) ; Phenylalanine Hydroxylase (EC 1.14.16.1) ; Ascorbic Acid (PQ6CK8PD0R)
    Language English
    Publishing date 1974-03
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 80257-8
    ISSN 0300-595X
    ISSN 0300-595X
    DOI 10.1016/s0300-595x(74)80027-7
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  4. Article: Hypophosphatasia with phenylketonuria.

    Blaskovics, M E / Shaw, K N

    Zeitschrift fur Kinderheilkunde

    1974  Volume 117, Issue 4, Page(s) 265–273

    MeSH term(s) Alkaline Phosphatase/blood ; Ethanolamines/urine ; Humans ; Hypophosphatasia/blood ; Hypophosphatasia/complications ; Hypophosphatasia/enzymology ; Hypophosphatasia/urine ; Infant ; Male ; Phenylalanine/blood ; Phenylketonurias/blood ; Phenylketonurias/complications ; Phenylketonurias/enzymology ; Phenylketonurias/urine
    Chemical Substances Ethanolamines ; Phenylalanine (47E5O17Y3R) ; Alkaline Phosphatase (EC 3.1.3.1)
    Language English
    Publishing date 1974
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 202982-0
    ISSN 1432-1076 ; 0044-2917 ; 0178-4935 ; 0044-4197
    ISSN (online) 1432-1076
    ISSN 0044-2917 ; 0178-4935 ; 0044-4197
    DOI 10.1007/bf00440493
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  5. Article: Phenylketonuria and its variations. A review of recent developments.

    Blaskovics, M E / Nelson, T L

    California medicine

    1971  Volume 115, Issue 1, Page(s) 42–57

    MeSH term(s) Adolescent ; Adult ; California ; Child ; Child Behavior Disorders/etiology ; Child Health Services ; Child, Preschool ; Diet Therapy ; Female ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/etiology ; Male ; Mental Disorders/etiology ; Phenylketonurias/complications ; Phenylketonurias/diagnosis ; Phenylketonurias/therapy ; Psychopathology
    Language English
    Publishing date 1971-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 390024-1
    ISSN 0008-1264 ; 0093-4038
    ISSN 0008-1264 ; 0093-4038
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  6. Article: Prenatal diagnosis and a case report of isovaleric acidaemia.

    Blaskovics, M E / Ng, W G / Donnell, G N

    Journal of inherited metabolic disease

    1978  Volume 1, Issue 1, Page(s) 9–11

    MeSH term(s) Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/metabolism ; Child ; Chromatography, Gas ; Female ; Humans ; Leucine/metabolism ; Male ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Valerates/metabolism
    Chemical Substances Valerates ; Leucine (GMW67QNF9C)
    Language English
    Publishing date 1978
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1007/bf01805706
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  7. Article ; Online: Phenylalaninaemia. Differential diagnosis.

    Blaskovics, M E / Schaeffler, G E / Hack, S

    Archives of disease in childhood

    1974  Volume 49, Issue 11, Page(s) 835–843

    MeSH term(s) Amino Acid Metabolism, Inborn Errors/diagnosis ; Chromatography, Paper ; Diagnosis, Differential ; Diet Therapy ; Dietary Proteins ; Electroencephalography ; Humans ; Infant, Newborn ; Mass Screening ; Methods ; Phenylacetates/urine ; Phenylalanine/blood ; Phenylalanine Hydroxylase/blood ; Phenylketonurias/classification ; Phenylketonurias/diagnosis ; Phenylpyruvic Acids/urine ; Tyrosine/metabolism
    Chemical Substances Dietary Proteins ; Phenylacetates ; Phenylpyruvic Acids ; Tyrosine (42HK56048U) ; Phenylalanine (47E5O17Y3R) ; Phenylalanine Hydroxylase (EC 1.14.16.1)
    Language English
    Publishing date 1974-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 524-1
    ISSN 1468-2044 ; 0003-9888 ; 1359-2998
    ISSN (online) 1468-2044
    ISSN 0003-9888 ; 1359-2998
    DOI 10.1136/adc.49.11.835
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Drug interaction: diazoxide and diphenylhydantoin.

    Roe, T F / Podosin, R L / Blaskovics, M E

    The Journal of pediatrics

    1975  Volume 87, Issue 3, Page(s) 480–484

    Abstract: In two children treated for hypoglycemia and convulsions with diazoxide and diphenylhydantoin, therapeutic serum diphenylhydantoin levels were not achieved despite doses of diphenylhydantoin of 17 and 29 mg/kg/day, respectively. After diazoxide was ... ...

    Abstract In two children treated for hypoglycemia and convulsions with diazoxide and diphenylhydantoin, therapeutic serum diphenylhydantoin levels were not achieved despite doses of diphenylhydantoin of 17 and 29 mg/kg/day, respectively. After diazoxide was discontinued, serum diphenylhydantoin levels were within the therapeutic range in each patient with doses of 6.6 and 10 mg/kg/day, respectively. Serum diphenylhydantoin fell to undetectable levels within four days after experimental reinitiation of diazoxide administration in one patient. Although the mechanism for the effect of diazoxide on serum concentrations of diphenylhydantoin is uncertain, an increased rate of metabolism of diphenylhydantoin is suggested by our findings. Decreased plasma protein binding of diphenylhydantoin, induced by diazoxide, was observed and may play a role.
    MeSH term(s) Administration, Oral ; Adolescent ; Child, Preschool ; Chromatography, Gas ; Diazoxide/administration & dosage ; Diazoxide/adverse effects ; Drug Therapy, Combination ; Ethosuximide/administration & dosage ; Humans ; Hyperinsulinism/drug therapy ; Hypoglycemia/drug therapy ; Infant ; Injections, Intramuscular ; Male ; Mephobarbital/administration & dosage ; Phenobarbital/administration & dosage ; Phenytoin/administration & dosage ; Phenytoin/metabolism ; Primidone/administration & dosage ; Radioligand Assay ; Seizures/drug therapy
    Chemical Substances Primidone (13AFD7670Q) ; Mephobarbital (5NC67NU76B) ; Ethosuximide (5SEH9X1D1D) ; Phenytoin (6158TKW0C5) ; Diazoxide (O5CB12L4FN) ; Phenobarbital (YQE403BP4D)
    Language English
    Publishing date 1975-09
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/s0022-3476(75)80665-2
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  9. Article: Nutrition in pregnancy of women with hyperphenylalaninemia.

    Acosta, P B / Blaskovics, M / Cloud, H / Lis, E / Stroud, H / Wenz, E

    Journal of the American Dietetic Association

    1982  Volume 80, Issue 5, Page(s) 443–450

    MeSH term(s) Abortion, Spontaneous/prevention & control ; Congenital Abnormalities/prevention & control ; Female ; Fetal Death/prevention & control ; Fetal Growth Retardation/prevention & control ; Humans ; Intellectual Disability/prevention & control ; Maternal-Fetal Exchange ; Phenylalanine/blood ; Phenylketonurias/diet therapy ; Pregnancy ; Tyrosine/deficiency ; Tyrosine/therapeutic use
    Chemical Substances Tyrosine (42HK56048U) ; Phenylalanine (47E5O17Y3R)
    Language English
    Publishing date 1982-05
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 390806-9
    ISSN 1878-3570 ; 0002-8223
    ISSN (online) 1878-3570
    ISSN 0002-8223
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  10. Article: The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria.

    O'Flynn, M E / Holtzman, N A / Blaskovics, M / Azen, C / Williamson, M L

    American journal of diseases of children (1960)

    1980  Volume 134, Issue 8, Page(s) 769–774

    Abstract: One hundred ninety-five infants who met diagnostic criteria for enrollment in the Collaborative Study of Children Treated for Phenylketonuria (PKU) underwent a standard three-day challenge with 180 mg/kg/day of phenylalanine for confirmation of diagnosis. ...

    Abstract One hundred ninety-five infants who met diagnostic criteria for enrollment in the Collaborative Study of Children Treated for Phenylketonuria (PKU) underwent a standard three-day challenge with 180 mg/kg/day of phenylalanine for confirmation of diagnosis. A sustained rise in serum phenylalanine levels of greater than 20 mg/dl was observed in 166 infants (85.1%), compatible with the diagnosis of classical PKU. In the remaining 29 infants (14.9%), the serum phenylalanine concentration either did not reach 20 mg/dL or, having achieved this level, subsequently declined below this point by 72 hours. It was agreed that these 29 patients had variant PKU and they were dropped from the Collaborative Study. We recommend that all infants diagnosed as having classic PKU undergo a challenge to confirm the diagnosis and need for continued treatment.
    MeSH term(s) Humans ; Infant ; Infant, Newborn ; Phenylalanine/blood ; Phenylketonurias/diagnosis ; Phenylketonurias/diet therapy ; Time Factors ; Tyrosine/blood
    Chemical Substances Tyrosine (42HK56048U) ; Phenylalanine (47E5O17Y3R)
    Language English
    Publishing date 1980-08
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 219380-2
    ISSN 0002-922X ; 0096-8994
    ISSN 0002-922X ; 0096-8994
    DOI 10.1001/archpedi.1980.02130200039013
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