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Mitochondrial complex deficiencies in a male with cardiomyopathy and 3‐methylglutaconic aciduria

Journal of inherited metabolic disease, 1995-03, Vol.18 (2), p.221-223

1995

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Role of Systemic Factors in Improving the Prognosis of Diabetic Retinal Disease and Predicting Response to Diabetic Retinopathy Treatment

Ophthalmology science (Online), 2024-07, Vol.4 (4), p.100494-100494, Article 100494

2024

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Peroxisomal Enzyme Deficiency in X‐linked Dominant Conradi—Hünermann Syndrome

Journal of inherited metabolic disease, 1989-01, Vol.12 (S2), p.358-360

1989

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Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience

Journal of inherited metabolic disease, 1989-01, Vol.12 (S2), p.263-266

1989

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Improving Interpretability in Machine Diagnosis

Ophthalmology science (Online), 2021-09, Vol.1 (3), p.100038, Article 100038

2021

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Survival Dynamics in Advanced Ovarian Cancer: R2 Resection Versus No-Surgery Paths Explored

Cancer control, 2024-09, Vol.31, p.10732748241285480

2024

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Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation

Clinical genetics, 1986-11, Vol.30 (5), p.392-398

1986

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A case of the B1 variant of GM2‐gangliosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.280-282

1990

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Prenatal diagnosis of mucolipidosis II by early amniocentesis

The Lancet (British edition), 1990-05, Vol.335 (8698), p.1164-1165

1990

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First-trimester diagnosis of Hunter syndrome (MPS II)

Prenatal diagnosis, 1992-01, Vol.12 (1), p.72-73

1992

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Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis

Clinical genetics, 1984-09, Vol.26 (3), p.195-203

1984

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Sources of Resistance to Rough Leaf Spot Disease in Sweet Sorghum

Plant disease, 1984-01, Vol.68 (12), p.1048

Zummo, Natale

1984

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Do Tracheas Grow After Slide Tracheoplasty?

The Annals of thoracic surgery, 2012-04, Vol.93 (4), p.1083-1086

2012

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Acid esterase deficiency: comparison of biochemical findings in infantile and adult forms

Journal of inherited metabolic disease, 1984, Vol.7 (2), p.155-156

1984

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The diagnosis of gaucher's disease in liver using 4-methylumbelliferyl-β- d-glucopyranoside

Clinica chimica acta, 1977-02, Vol.75 (1), p.155-161

1977

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Gm2‐gangliosidosis variant with altered substrate specificity: evidence for α‐locus genetic compound

Journal of inherited metabolic disease, 1987-01, Vol.10 (4), p.403-404

1987

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Registration of Cowley Sweet Sorghum

Crop science, 1985-01, Vol.25 (1), p.200-200

1985

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Gaucher's disease Factors affecting the 4-methylum-belliferyl-β-D-glucosidase activity of cultured skin fibroblasts

Clinical genetics, 1978-08, Vol.14 (2), p.77-79

1978

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Studies on human N-acetyl-Beta-d-hexosaminidase C separated from neonatal brain

Biochemical journal, 1976-04, Vol.155 (1), p.205-208

1976

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Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male

Journal of neurology, neurosurgery and psychiatry, 1991-07, Vol.54 (7), p.659-660

1991

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Registration of Bailey sweet sorghum [New cultivars]

Crop science, 1984-01, Vol.24 (5), p.997-998

1984

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Studies on hexosaminidase C in cultured skin fibroblasts from patients with Sandhoff's disease

Biochemical Society transactions, 1975-01, Vol.3 (2), p.247-250

1975

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Lysosomal enzymes of cultured amniotic fluid cells

Clinica chimica acta, 1973-03, Vol.44 (3), p.295-299

1973

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Lysosomal enzymes of amniotic fluid in relation to gestational age

American journal of obstetrics and gynecology, 1974-07, Vol.119 (6), p.821-828

1974

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Registration of 'Smith' sweet sorghum

Crop science, 1988-01, Vol.28 (1), p.195-196

1988

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Mitochondrial complex deficiencies in a male with cardiomyopathy and 3‐methylglutaconic aciduria

Role of Systemic Factors in Improving the Prognosis of Diabetic Retinal Disease and Predicting Response to Diabetic Retinopathy Treatment

Peroxisomal Enzyme Deficiency in X‐linked Dominant Conradi—Hünermann Syndrome

Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience

Improving Interpretability in Machine Diagnosis

Survival Dynamics in Advanced Ovarian Cancer: R2 Resection Versus No-Surgery Paths Explored

Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation

A case of the B1 variant of GM2‐gangliosidosis

Prenatal diagnosis of mucolipidosis II by early amniocentesis

First-trimester diagnosis of Hunter syndrome (MPS II)

Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis

Sources of Resistance to Rough Leaf Spot Disease in Sweet Sorghum

Do Tracheas Grow After Slide Tracheoplasty?

Acid esterase deficiency: comparison of biochemical findings in infantile and adult forms

The diagnosis of gaucher's disease in liver using 4-methylumbelliferyl-β- d-glucopyranoside

Gm2‐gangliosidosis variant with altered substrate specificity: evidence for α‐locus genetic compound

Registration of Cowley Sweet Sorghum

Gaucher's disease Factors affecting the 4-methylum-belliferyl-β-D-glucosidase activity of cultured skin fibroblasts

Studies on human N-acetyl-Beta-d-hexosaminidase C separated from neonatal brain

Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male

Registration of Bailey sweet sorghum [New cultivars]

Studies on hexosaminidase C in cultured skin fibroblasts from patients with Sandhoff's disease

Lysosomal enzymes of cultured amniotic fluid cells

Lysosomal enzymes of amniotic fluid in relation to gestational age

Registration of 'Smith' sweet sorghum

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