Biomedical subjects

D Hoefnagel

Publications and source records attributed to D Hoefnagel.

At least 19 recordsLinked to original sources

PubMed1979

Ovarian failure in galactosaemia.

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Adult↗

PubMed1979

Transient respiratory depression of the newborn. Its occurrence after succinylcholine administration to the mother.

A baby born after a cesarean section experienced transient respiratory depression. The mother had a postsuccinylcholine apnea caused by homozygosity for the atypical allele for serum pseudocholinesterase; the baby was heterozygous for this allele and the usual allele for serum pseudocholinesterase. The possible relationship between the genotype of the baby and the respiratory difficulty at birth is raised.

Adult↗

PubMed1978

Progressive fibrosis of the deltoid muscles.

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Child, Preschool↗

PubMed1978

Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.

We have studied two female newborns with comptomelic dwarfism, XY-gonadal dysgenesis and chromosome anomalies. The preponderance of "females" among the hitherto reported cases of this allegedly autosomal recessive form of lethal drawfism may be due to an increased incidence of an associated XY-gonadal dysgenesis.

Chromosome Aberrations↗

PubMed1976

Letter: Prenatal diethylstilboestrol exposure and male hypogonadism.

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Abortion, Spontaneous↗

PubMed1976

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy.

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Cerebroside-Sulfatase↗

PubMed1975

Banding identification of chromosomal abnormalities in four patients: ring (6), translocation (2q-;15q+), translocation (21q;21q) and deletion (22q-).

Four children with mental deficiency and different chromosomal errors, previously reported, have been restudied with the use of the G-banding technique. The errors include ring-6, t(2q-; 15+), t(21q;21q) and 22q-.

Adolescent↗

PubMed1974