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Neurology
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October 1, 1992
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis
K Hyland, R A Surtees, C Rodeck, et al.
The CLAO Journal : Official Publication of the Contact Lens Association of Ophthalmologists, Inc
|
March 1, 1987
A new technique for teaching retinoscopy
K Emery, M Santiago, T Clayton, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology
S P Horslen, A M Lawson, M Malone, et al.
Pediatric Research
|
April 1, 1995
Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?
P T Clayton, M Casteels, G Mieli-Vergani, et al.
Journal of Inherited Metabolic Disease
|
January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolism
Matthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 15, 1986
Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts
A M Lawson, M J Madigan, D Shortland, et al.
American Journal of Medical Genetics
|
September 25, 1995
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome
J A Hyett, P T Clayton, G Moscoso, et al.
European Journal of Pediatrics
|
April 1, 1986
Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11
J K Wales, V Walker, I E Moore, et al.
World Journal of Gastroenterology
|
July 12, 2012
Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency
Nedim Hadžić, Laura N Bull, Peter T Clayton, et al.
Journal of Inherited Metabolic Disease
|
May 19, 1998
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates
J S Sequeira, A Vellodi, M T Vanier, et al.
Page
of 25
Search research articles
Search
Showing results (61-70 of 248) with videos related to
Sort By:
Page
of 25
Neurology
|
October 1, 1992
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis
K Hyland, R A Surtees, C Rodeck, et al.
The CLAO Journal : Official Publication of the Contact Lens Association of Ophthalmologists, Inc
|
March 1, 1987
A new technique for teaching retinoscopy
K Emery, M Santiago, T Clayton, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology
S P Horslen, A M Lawson, M Malone, et al.
Pediatric Research
|
April 1, 1995
Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?
P T Clayton, M Casteels, G Mieli-Vergani, et al.
Journal of Inherited Metabolic Disease
|
January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolism
Matthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 15, 1986
Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts
A M Lawson, M J Madigan, D Shortland, et al.
American Journal of Medical Genetics
|
September 25, 1995
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome
J A Hyett, P T Clayton, G Moscoso, et al.
European Journal of Pediatrics
|
April 1, 1986
Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11
J K Wales, V Walker, I E Moore, et al.
World Journal of Gastroenterology
|
July 12, 2012
Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency
Nedim Hadžić, Laura N Bull, Peter T Clayton, et al.
Journal of Inherited Metabolic Disease
|
May 19, 1998
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates
J S Sequeira, A Vellodi, M T Vanier, et al.
Page
of 25