Chediak-Higashi Syndrome I: Biochemical Abnormality and Prospects for Prenatal Diagnosis1

2015 ◽  
pp. 126-130 ◽  
Author(s):  
P. H�sli ◽  
C. Griscelli ◽  
R. A. Good
Keyword(s):  
Biochemical Abnormality ◽  
Chediak Higashi Syndrome

Importance of Morphology in the Era of Molecular Biology: Lesson Learnt from a Case of Chediak–Higashi Syndrome

2021 ◽  
Author(s):  
Ankita Singh ◽  
Ankur Kumar Jindal ◽  
Raviteja Indla ◽  
Praveen Sharma ◽  
Neelam Varma ◽  
...  
Keyword(s):  
Molecular Biology ◽  
Chediak Higashi Syndrome

A biochemical abnormality found in muscle from unstressed malignant-hyperpyrexia-susceptible humans

1984 ◽  
Vol 12 (3) ◽  
pp. 357-358 ◽  
Author(s):  
F. R. ELLIS ◽  
P. J. HALSALL ◽  
P. ALLAM ◽  
E. HAY
Keyword(s):  
Malignant Hyperpyrexia ◽  
Biochemical Abnormality

Bone marrow aspirate in Chédiak-Higashi syndrome

2011 ◽  
Vol 87 (1) ◽  
pp. 100-100 ◽  
Author(s):  
Abbas Hashim Abdulsalam ◽  
Nafila Sabeeh ◽  
Barbara J. Bain
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Aspirate ◽  
Chediak Higashi Syndrome

Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome

2015 ◽  
Vol 100 (5) ◽  
pp. 704-707 ◽  
Author(s):  
Ninad Desai ◽  
James D Weisfeld-Adams ◽  
Scott E Brodie ◽  
Catherine Cho ◽  
Christine A Curcio ◽  
...  
Keyword(s):  
Optic Neuropathy ◽  
Late Onset ◽  
Chediak Higashi Syndrome

MENTAL RETARDATION IN A FAMILY WITH PHENYLKETONURIA AND MILD HYPERPH ENYLALANINEMIA

PEDIATRICS ◽  
1969 ◽  
Vol 44 (5) ◽  
pp. 655-660
Author(s):  
Bernard E. Cohen ◽  
Arieh Szeinberg ◽  
Wifred Berman ◽  
Yermiahu Aviad ◽  
Moshe Crispin ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Mentally Retarded ◽  
Biochemical Abnormality ◽  
Maternal Uncle ◽  
The Family ◽  
Phenylalanine Metabolism ◽  
Inbred Family

A highly inbred family with five mentally retarded persons is described. Two sibs presented typical characteristics of phenylketonuria, while one mentally retarded sib did not show any biochemical abnormality. The mother and maternal uncle had mild hyperphenylalaninemia. It is pointed out in the discussion that, while the mental retardation (at least in some of these subjects) may be independent of disturbances of phenylalanine metabolism, it is possible also to explain all the findings in the family on a unified basis, involving a variant hyperphenylalaninemia with tolerance increasing with age and "maternal phenylketonuia."

A Therapeutic Trial of Fatty Acid Supplementation in Cystic Fibrosis

PEDIATRICS ◽  
1976 ◽  
Vol 57 (4) ◽  
pp. 474-479
Author(s):  
Robert B. Elliott
Keyword(s):  
Cystic Fibrosis ◽  
Fatty Acid ◽  
Clinical Course ◽  
Therapeutic Trial ◽  
Biochemical Abnormality ◽  
Fatty Acid Supplementation ◽  
Oil Emulsion ◽  
Soya Oil ◽  
One Year ◽  
Better Than

Seven children with cystic fibrosis (CF) have been treated for at least one year with intravenously administered soya oil emulsion. In all, an improvement of at least one biochemical abnormality in character with the disease appeared. The children's clinical course remains benign. This course is remarkably better than that of other children with CF treated without Intralipid in Auckland in the same period, though a placebo effect cannot be discounted. It is postulated that intravenous supplementation with essential fatty acid in CF may in turn partially correct an error of metabolism of prostaglandins present in the disease.

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