نتایج جستجو برای: phenylketonurias

تعداد نتایج: 791  

Journal: :Archives of disease in childhood 1975
I Smith D E Francis B E Clayton O H Wolff

This study compares three feeding regimens for infants with phenylketonuria diagnosed by neonatal screening. Group 1 (five children) received Minafen (Cow & Gate) until they weighed twice their birthweights; Aminogran (Allen & Hanbury) was then added to the feeds in increasing amounts and replaced Minafen at between 8 and 10 months of age. Group 2 (five children) received Aminogran from the neo...

Journal: :Archives of disease in childhood 1979
J E Stevenson J Hawcroft M Lobascher I Smith O H Wolff P J Graham

A sample of 99 early treated phenylketonuric children showed higher levels of behavioural deviance than 197 matched controls. For boys this excess of behavioural deviance persisted when IQ was taken into account. For phenylketonuric girls however it was restricted to those with IQs less than 70. The type of behavioural deviance shown by the boys over the whole IQ range was predominantly neuroti...

Journal: :The Medical journal of Malaysia 1989
S Karnaneedi K E Choo W A Ariffin M Norimi

A six year old Malay boy with phenylketonuria is presented. The history, clinical examination, biochemical findings and treatment are described followed by a discussion on phenylketonuria.

Journal: :British medical journal 1975
J L Burton S K Goolamali S Shuster

The sebum excretion rate has been found to be increased in female patients with phenylketonuria. This may be related to a depletion of midbrain dopamine and release of the sebotrophic hormone.

Journal: :Journal of medical genetics 1992
L Kalaydjieva I Kremensky

Living under a totalitarian regime has many effects on the structure, way of thinking, and relations in a society. However, it is the impact on neonatal genetic screening that we discuss in this paper. Genetic screening functions at the interface between health services and society at large. Being involved for over a decade in setting up the Bulgarian PKU screening programme, we have had to dea...

1988
H.S. Narayanan B.S. Sridhara Rama Rao P. Madhu Rao D.K. Subba Krishna

A report is made of cases of phenylketonuria detected at Bangalore along with experiences in the dietary therapy and management of the cases. The need for early detection and early dietary intervention is indicated.

Journal: :Clinical chemistry 1974
J A Ambrose

Submitter: John A. Ambrose, Chief, Genetic Chemistry Laboratory, Center for Disease Control, 1600 Clifton Rd., N.E., Atlanta, Ga. 30333 Evaluators: Radleigh Becker, Clinical Chemist, Laboratory Evaluation Section, Wisconsin Division of Health, Madison, Wis. 53706 Eve Blake, Chief, Biochemistry Section, Georgia Department of Human Resources, 47 Trinity Ave., Atlanta, Ga. 30334 Leonard Sideman, C...

Journal: :Gut 1988
L G Greeves D J Carson J A Dodge

We report five cases of peptic ulceration in patients with classical phenylketonuria and suggest that there may be a causal relationship between the two conditions.

Journal: :British medical journal 1972
D N Raine J R Cooke W A Andrews D F Mahon

Before introducing a more comprehensive screen such as plasma chromatography, with its potential to detect 20 amino-acid disorders-an advantage over screening methods which detect only phenylketonuria-the greatly increased problems of organization and the effect on the community, midwives, paediatric services, and laboratory should be considered. The three years' experience in Birmingham showed...

2004
Véronique ABADIE Jean-Marie SAUDUBRAY

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