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Seizures associated with stroke in childhood

Pediatric neurology, 1995-02, Vol.12 (2), p.136-138

1995

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Episodic spontaneous hypothermia with hyperhidrosis: Implications for pathogenesis

Pediatric neurology, 1994-02, Vol.10 (1), p.58-60

1994

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Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

Neurology, 1993-04, Vol.43 (4), p.668-668

1993

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A lesson in humanism: one doctor's experience

Journal of the Medical Association of Georgia, 1994-11, Vol.83 (11), p.613

Hartlage, P L

1994

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Molecular genetic and genetic correlations in sodium channelopathies : lack of founder effect and evidence for a second gene

American journal of human genetics, 1993-06, Vol.52 (6), p.1074-1084

1993

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Muscle imaging in neuromuscular disease using computerized real-time sonography

Muscle & nerve, 1988-03, Vol.11 (3), p.270-275

1988

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MR imaging of moyamoya in neurofibromatosis

American journal of neuroradiology : AJNR, 1987, Vol.8 (1), p.178-179

1987

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Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria)

Neuropediatrics, 1986-02, Vol.17 (1), p.48-52

1986

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Fatal infantile form of muscle phosphorylase deficiency

Neurology, 1978-11, Vol.28 (11), p.1124-1124

1978

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Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test

Pediatric research, 1980-03, Vol.14 (3), p.224-227

1980

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Giant Axonal Neuropathy in a Child With Insulin-Dependent Diabetes Mellitus

Journal of child neurology, 1995-05, Vol.10 (3), p.250-253

1995

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Cone dystrophies: clinical and electrophysiological findings

German journal of ophthalmology, 1992, Vol.1 (2), p.105

1992

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Anticonvulsive drugs and blood levels of lactate, pyruvate, and glucose in children with seizures

Neurology, 1986-09, Vol.36 (9), p.1267-1267

1986

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Malignant hyperthermia and glucose-6-phosphate dehydrogenase deficiency

Anesthesiology (Philadelphia), 1984-06, Vol.60 (6), p.601-603

1984

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Decreased muscle enoyl-CoA hydratase activities in patients with exercise intolerance

Clinica chimica acta, 1990-12, Vol.193 (1), p.89-90

1990

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Myelography of sacral agenesis

American journal of neuroradiology : AJNR, 1981-07, Vol.2 (4), p.319-323

1981

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Serum carnosinase deficiency: Decreased affinity of the enzyme for the substrate

Journal of inherited metabolic disease, 1982-03, Vol.5 (S1), p.13-14

1982

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Internalized capillaries in hypokalemic periodic paralysis

Archives of neurology (Chicago), 1981-09, Vol.38 (9), p.602-602

1981

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Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart

Neurology, 1979-11, Vol.29 (11), p.1538-1538

1979

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Stroke in sickle cell disease

Journal of the Medical Association of Georgia, 1986-05, Vol.75 (5), p.271

1986

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Serum carnosinase deficiency: a non-disabling phenotype?

Journal of mental deficiency research, 1985-12, Vol.29 ( Pt 4), p.383

1985

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Argininosuccinic aciduria: Perinatal diagnosis and early dietary management

The Journal of pediatrics, 1974-07, Vol.85 (1), p.86-88

1974

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Decreased muscle enloyl-CoA hydratase activities in patients with exercise intolerance

Clinica chimica acta, 1990, Vol.193 (1-2), p.89-90

1990

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SERUM CARNOSINASE DEFICIENCY: A NON-DISABLING PHENOTYPE?

Journal of intellectual disability research, 1985-12, Vol.29 (4), p.383-389

1985

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Peripheral neuronal changes in growth-retarded neonates: an ultrastructural study

Obstetrics and gynecology (New York. 1953), 1987-06, Vol.69 (6), p.916

1987

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Seizures associated with stroke in childhood

Episodic spontaneous hypothermia with hyperhidrosis: Implications for pathogenesis

Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

A lesson in humanism: one doctor's experience

Molecular genetic and genetic correlations in sodium channelopathies : lack of founder effect and evidence for a second gene

Muscle imaging in neuromuscular disease using computerized real-time sonography

MR imaging of moyamoya in neurofibromatosis

Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria)

Fatal infantile form of muscle phosphorylase deficiency

Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test

Giant Axonal Neuropathy in a Child With Insulin-Dependent Diabetes Mellitus

Cone dystrophies: clinical and electrophysiological findings

Anticonvulsive drugs and blood levels of lactate, pyruvate, and glucose in children with seizures

Malignant hyperthermia and glucose-6-phosphate dehydrogenase deficiency

Decreased muscle enoyl-CoA hydratase activities in patients with exercise intolerance

Myelography of sacral agenesis

Serum carnosinase deficiency: Decreased affinity of the enzyme for the substrate

Internalized capillaries in hypokalemic periodic paralysis

Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart

Stroke in sickle cell disease

Serum carnosinase deficiency: a non-disabling phenotype?

Argininosuccinic aciduria: Perinatal diagnosis and early dietary management

Decreased muscle enloyl-CoA hydratase activities in patients with exercise intolerance

SERUM CARNOSINASE DEFICIENCY: A NON-DISABLING PHENOTYPE?

Peripheral neuronal changes in growth-retarded neonates: an ultrastructural study

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